X-linked scapuloperoneal syndrome - BMJThe inheritance was of X-linked recessive pattern and the disorder was linked with colour blindness. CASEREPORTS Thepedigree ofthe family is

Journal of Neurology, Neurosurgery, and Psychiatry, 1972, 35, 208-215

X-linked scapuloperoneal syndromeP. K. THOMAS, D. B. CALNE,' AND C. F. ELLIOTT2

From the Department of Neurology, the Royal Free Hospital, andthe Royal National Orthopaedic Hospital, London

SUMMARY Observations are presented on a family with muscular weakness and wasting with an

onset in childhood, predominantly affecting the proximal muscles in the upper limbs and thedistal muscles in the lower. This was accompanied by contractures of the elbows and by pes cavus.

Pseudohypertrophy was absent. Progression was slow, but an associated cardiomyopathy de-veloped in adult life. Investigations favoured a myopathic basis. The inheritance was of X-linkedrecessive pattern and the disorder was linked with deutan colour blindness. The clinical features inthis family appear to be distinctive and it is likely that the disorder represents a separate clinicalentity.

Cases of muscular weakness and wasting affect-ing the proximal musculature in the upper limbsand the distal muscles in the lower have beenrecognized for many years, perhaps the firstdescription being that of Brossard (1886).Particular interest in such cases was shown byDawidenkow (1927, 1929, 1939). He drewattention to patients with muscular involvementof this distribution, considered to be the resultof a denervating process, which commonly beganin early adult life. This was usually associatedwith pes cavus and distal sensory loss in thelimbs. The disorder displayed an autosomaldominant pattern of inheritance. It has beenconsidered to exhibit clinical affinities withCharcot-Marie-Tooth disease (Wilson, 1940).Subsequent reports, however, suggested that the'scapuloperoneal syndrome' does not representa single entity. Kaeser (1965) described a familyin which there was no accompanying sensoryloss but which also displayed an autosomaldominant inheritance, and which was believedto be due to a slowly progressive spinal muscularatrophy. A similar family was reported by Rickerand Mertens (1968) and additional cases havebeen described by Emery, Fenichel, and Eng(1968), Meadows and Marsden (1969), andSchuchmann (1970). Other reports have indi-cated a myopathic basis. Seitz (1957) andHausmanowa-Petrusewicz and Zielin'ska (1962)recorded sporadic cases of the scapuloperoneal

1 Present address: Hammersmith Hospital, London.2 Present address: Lidcombe State Hospital, Sydney, Australia.

syndrome considered to be of myopathic origin,and Ricker and Mertens (1968) stated that thispattern of muscle disturbance could be en-countered in the facioscapulohumeral form ofmuscular dystrophy. Some of the earlier reports,such as that by Oransky (1927), are difficult toassess because of the absence of histological orelectromyographic studies, although Eisenlohr(1889) considered his case to be a myopathy onhistological grounds.

In this communication, we report observationson a family in which the affected membersexhibited a slowly progressive disorder beginningin childhood, affecting the proximal musclesin the upper limbs and the distal muscles in thelower, and which was associated with a cardio-myopathy. The inheritance was of X-linkedrecessive pattern and the disorder was linkedwith colour blindness.

CASE REPORTS

The pedigree of the family is given in Fig. 1. In thecase histories given below, the individuals areidentified by the numeration given in this Figure.All living relatives of the propositus have beenexamined personally, but serum enzyme estimationsand electromyographic and electrocardiographicstudies were performed only on the propositus.Adequate hospital records were obtained for twoaffected relatives who had died. Three subjects(cases V.8 to 10) were too young for the testing ofcolour vision to be possible.

CASE IV.13; MALE, AGED 34 YEARS, PROPOSITUS The

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X-linked scapuloperoneal syndrome

male femaleo Q unaffected / propositus* * myopathy * died in infancy, 0 dead CB colour blind

( carrier N normal colour veision

)1 dead, possibly affected

FIG. 1. Pedigree

index case (Fig. 2) was a motor mechanic. It hadbeen noticed in early childhood that extension of hiselbows was limited and that he had difficulty inflexing his neck. At the age of 11 years, he began to'walk on his toes', and subsequently he has hadslowly increasing difficulty in walking. This was

partially relieved by bilateral surgical elongation ofthe calcaneal tendons performed in 1964. At present,he is unable to run, but can walk for reasonabledistances, although his ankles tend to turn intoinversion. He became aware of weakness in his armswhen he was in his mid-teens, and this has alsoslowly increased in severity. He has suffered fromrecurrent dislocations of both shoulders.A soft systolic murmur was discovered in the

pulmonary area in 1964 and in June 1968 he de-veloped atrial fibrillation after a throat infection.Cardiological examination (Dr. M. K. Towers)again revealed a pulmonary systolic murmur but no

other abnormality and there were no cardiologicalsymptoms. An electrocardiogram confirmed atrialfibrillation, but was otherwise unremarkable. Radio-graphy of the chest showed a normal cardiac outline.

Neurological examination demonstrated deutancolour blindness (Ishihara charts and AmericanOptical H-R-R pseudoisochromatic plates) andmild bilateral ptosis. Otherwise the cranial nerveswere normal. There was no facial weakness and hissternomastoid muscles were of normal bulk and

power. Forward flexion of his neck was limited toabout 150 of movement. There was slight bilateralwasting of the scapular and deltoid muscles, andconsiderable wasting of biceps and triceps muscles.Elbow extension was limited by muscular contrac-tures to approximately 1200 on the right and 1500 onthe left. He showed moderate weakness of supra-spinatus and infraspinatus muscles, slightly moremarked on the right, but no other weakness of thescapular muscles. There was mild symmetrical weak-ness of the deltoid muscles, severe weakness ofbiceps, and slightly less severe weakness of tricepsmuscles. The wrist and finger extensors were ofminimally reduced power on both sides and therewas mild weakness of the thenar group on the left.Otherwise, the forearm muscles and small muscles ofthe hands were of normal strength and there was noweakness of the trunk musculature. In the legs,muscle bulk in the thighs was normal, but the lowerleg muscles were grossly wasted with the exceptionof the extensor digitorum brevis muscles, both ofwhich were normally developed. He showed noproximal weakness, but dorsiflexion at the anklesand toe extension were severely weakened, and ankleeversion was absent. The calf muscles were of normalpower. The tendon reflexes were absent in the armsand legs, the abdominal reflexes all obtainable andthe plantar responses flexor. He showed no sensoryloss. There was bilateral pes cavus.

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P. K. Thomas, D. B. Calne, and C. F. Elliott

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of 58 m/sec was recorded percutaneously at theknee. These values are also normal.

Quantitative electromyographic studies were per-formed by Dr. R. G. Willison, employing thetechniques described by Fitch and Willison (1965)and Rose and Willison (1967). 'The right tricepsmuscle was examined with a concentric needleelectrode at a load of 2 kg. Seventeen areas weresampled. Individual motor units were highly poly-phasic and in some areas a fairly full motor unitpattern was seen even at this load. The number ofpotential changes per second reached 1397 in onearea and the mean was 798, this figure being greaterthan nine standard deviations above the mean value

/ for a control group. The mean amplitude for 17areas was 0 77 mV. The maximum voluntary forcethat could be achieved was 7 kg. The left tibialisanterior muscle was also sampled during moderateto strong effort. Areas showing over 1000 potentialchanges per second were found. In some areas, meanamplitudes of 1-8 mV were observed, but only witha full pattern.' It was concluded that the findingswere unlike those in neurogenic atrophy and were infavour of a myopathic disorder. The comment wasmade that large values for mean amplitude may beseen in long-standing and slowly progressive muscledisease.The patient refused to submit to muscle biopsy.

The distal wastingand the proximal

The serum creatine kinase level was increased(225 i.u.). Electromyography of the left bicepsbrachii and tibialis anterior muscles, recordedthrough a concentric needle electrode, revealed noabnormal insertion activity or spontaneous electricalactivity. In both muscles, the motor unit recruitmentpattern was slightly reduced. Individual motor unitaction potentials tended to be brief and polyphasicbut were mostly of normal amplitude, although therewere areas where they were of reduced amplitude(less than 0-5 mV). Motor nerve conduction velocitywas measured in the left median and left commonperoneal nerves. Normal values of 56 and 53 m/secrespectively were obtained. On stimulation of theindex finger through ring electrodes, a median nervesensory action potential of normal amplitude (122V)and velocity (58 m/sec) was obtained percutaneously.On stimulation of the left anterior tibial nerve at the

CASE iv. 12; MALE AGED 1O YEARS The half-brotherof the propositus did not begin to walk until the ageof 19 months and is stated always to have walked'awkwardly'. At the age of 3 years it was observedthat his feet were excessively arched. He has slowlydeveloped increased difficulty in walking and hasbeen unable to take part in athletic activities atschool. He has been unaware of any disability in hisarms. There is some intellectual retardation whichhas not been formally assessed.Examination revealed deutan colour blindness.

His cranial nerves were otherwise normal. There wasno limitation of neck flexion. He displayed no obvi-ous wasting in the upper limbs and no limitation ofelbow extension, but there was mild symmetricalweakness of the supraspinatus, deltoid, biceps, andtriceps muscles. There was also no wasting in thelegs. Dorsiflexion and eversion were moderatelyweak at both ankles, as was extension of the toes.The tendon reflexes were all absent, the plantarresponses were flexor, and there was no sensory loss.Bilateral pes cavus was present.

CASE IV.8; MALE AGED 15 YEARS No abnormalitywas detected until the age of 5 years when difficultyin walking became evident. This has slowly increasedbut has not become severe and amounts to a slightincapacity only. He has recently taken up employ-ment as an engineering apprentice. At about the age

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of 11 years, mild weakness of the upper arms wasnoticed, together with some limitation of elbowextension.

Examination revealed deutan colour blindness.His face had a slightly 'myopathic' appearance, butthere was no detectable weakness. The other cranialnerves were normal and neck flexion was full. Heshowed no wasting in the upper limbs, but there wasmild bilateral weakness of the biceps and tricepsmuscles and some restriction of elbow extension.The forearm and small hand muscles were of normalbulk and power. He showed mild wasting of themuscles of the anterolateral compartment of thelower legs with weakness of dorsiflexion and eversionat the ankles and of extension of the toes. The tendonreflexes were absent in the arms, but the knee jerkswere normal. The left ankle jerk was depressed andthe right absent. Both plantar responses were flexorand there was no sensory loss. Bilateral pes cavuswas present.

CASE iv.2; FEMALE AGED 28 YEARS, AND iv.4, MALEAGED 17 YEARS Neither of these individuals hadany neurological symptoms and there were noabnormal findings on examination except that bothhad deutan colour blindness.

CASE iii.2; MALE At the age of 45 years the patientwas admitted to St. Mary's Hospital, Sidcup, Kent,under the care of Dr. T. L. Reeves, because of severeeffort dyspnoea. There was a previous history ofbilateral congenital dislocation of the hips for whichhe received surgical treatment when aged 5 years.He remained with life-long difficulty in walking andhad never worked. His sister stated that she believedhe was colour blind.On neurological examination, he was considered

to be of reduced intelligence, but this was notformally assessed. The cranial nerves were normal,no facial weakness or weakness of the sternomastoidmuscles being detectable. In the upper limbs, wastingof the upper arm muscles and of m. brachioradialiswas evident. There was bilateral weakness of thebiceps, triceps, and brachioradialis muscles, andpossibly also of the deltoid muscles. In the lowerlimbs, there was bilateral weakness of the quadricepsand hamstring muscles and of dorsiflexion at theankles. The tendon reflexes were absent in the arms,but sluggish knee and ankle jerks were obtained. Theplantar responses were flexor and there was nosensory loss. He had bilateral pes cavus.

Examination of the cardiovascular system re-vealed congested neck veins, considerable cardiacenlargement, and a systolic murmur in the aorticarea. There was tachycardia of 100 per minute withmultiple ectopic beats. He was normotensive.A radiograph of the chest showed a greatly

increased transverse cardiac diameter. There was noundue prominence of the aortic knuckle or of the

pulmonary vascular markings. Electrocardiographydemonstrated sinus rhythm with a variable P-Rinterval. The QRS complexes were normal, althoughthere were multiple ventricular extrasystoles ofbizarre form. The ST segment was isoelectric. TheT waves were flattened in standard lead I and in AVLand inverted in leads V5 and V6.

Electromyography was performed at St. Thomas'sHospital (Dr. D. Newton). Biceps brachii, tibialisanterior, peroneus longus, and extensor digitorumbrevis muscles were examined. No denervationpotentials were detected. The motor unit pattern onvolition was found to be reduced in all four muscles.Some of the units in m. biceps were of broken-upappearance, but those in the leg muscles were oflarge amplitude although their size was not specified.It was considered that these findings favoureddenervation but no definite conclusion was reached.He died suddenly five weeks after admission to

hospital. A necropsy was performed by ProfessorP. M. Daniel. The heart was massively and sym-metrically enlarged and weighed 780 g. The ventricu-lar cavities were large; the valves and endocardiumwere normal. The ventricular walls were not obvi-ously hypertrophied and the heart muscle was ofnormal and uniform colour. The coronary arterieswere normal and there were only very small athero-matous plaques in the lower aorta. Histologicalexamination of the heart showed extensive fibrousreplacement of the myocardium.

In the upper limbs, the deltoid, forearm, and hypo-thenar muscles were macroscopically normal. Bothtriceps muscles were white and fibrotic, as were thebrachialis muscles and the deeper portions of biceps,and the thenar muscles were also pale. In the lowerlimbs, the thigh muscles were dark as were theanterior compartment muscles of the lower legs, butthe calf muscles were white and fibrotic. The findingson histological examination were as follows.

In m. biceps brachii (Fig. 3), there was a grosslyincreased variation in muscle fibre diameter: somefibres were abnormally large (up to 150 um), otherssmall and atrophic. There was no clear indication ofgrouping of the atrophic fibres. There was an in-creased number of centrally situated nuclei, par-ticularly in fibres of larger diameter. Occasionaldegenerate fibres surrounded by histiocytes andmononuclear cells were present.

There was a substantially increased quantity ofendomysial collagen and fat. Similar but less severechanges were evident in deltoid and tibialis anteriormuscles. The sample taken from a gastrocnemiusmuscle was grossly abnormal, with an almost totalreplacement by fibrofatty connective tissue, only afew scattered atrophic muscle fibres being present.Milder changes were evident in the sternomastoid,thenar, psoas, and quadriceps femoris muscles. Inthese muscles (Fig. 4), the range of fibre diameter wasabnormally great and there was an increased number

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FIG. 3. Transverse section from biceps brachii muscle showing greatly increased variation in muscle fibre size,centrally situated nuclei and increased endomysial connective tissue. Haematoxylin and eosin.

of centrally placed nuclei. There was no indication ofgrouping of the atrophic fibres.No abnormality was detected in sections of the

sciatic nerve. The density of myelinated nerve fibresappeared entirely normal. The spinal cord was notexamined.

CASE iii.3; MALE This patient attended the WestHerts. Hospital in 1953 when aged 38 years becauseof a momentary episode of vertigo followed byanarthria for a period of two hours. He had aprevious history of having developed difficulty inwalking at the age of 10 years, and also deformity ofhis feet because of which he wore surgical boots. Itwas stated that his upper arms had 'never developed'and that they had been weak since childhood. Inaddition, he had had a scoliosis and bilaterallimitation of elbow extension since early life. How-ever, he was not greatly handicapped and worked asa publican. He is known to have been colour blind.On neurological examination, his facial muscles

were recorded as being thin, but no weakness wasnoted. His cranial nerves were otherwise normal.There was weakness and wasting of the shoulder andupper arm muscles and limitation of extension of

both elbows, neither of which could be extendedbeyond 1000. He had scoliosis. In his legs, the leftlower leg muscles were wasted as compared with theright and bilateral weakness of the peronei was noted.The tendon reflexes were all absent in the arms, butpresent in the legs. The plantar responses were flexorand there was no sensory loss. He showed bilateralpes cavus. On examination of the cardiovascularsystem, he was observed to have a bradycardia (36-40/min) and a greatly enlarged heart, confirmedradiographically. A late systolic murmur was heardat the apex and left sternal edge. There were no signsof cardiac failure. His blood pressure was 160/80mmHg. Electrocardiography (ECG) revealed a slownodal rhythm with evidence of an interventricularconduction defect, together with ST segment and Twave abnormalities. He was seen by Dr. PurdonMartin at the National Hospital, Queen Square, whoconfirmed the neurological findings. He consideredthat the diagnosis was one of myopathy, but neitherelectromyography nor muscle biopsy was performed.The patient was admitted to the West Herts.

Hospital in 1954 with acute left chest pain and signsof mild cardiac failure. A repeat ECG showed evi-dence of ischaemia over the anterior part of the left

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ventricle and a radiograph of the chest again showeda greatly enlarged heart. A diagnosis of myocardialinfarction was made. He was treated with anti-coagulants and made an uneventful recovery, withimprovement in the ECG changes.

In August 1957 he was readmitted with a lefthemiparesis of sudden onset, probably embolic inorigin, which slowly recovered. After discharge, hewas referred to Dr. J. F. Goodwin at HammersmithHospital who saw him in October 1967. A two year

history of moderate exertional dyspnoea was

elicited. A venous pressure of 3 to 4 cm was notedwith occasional cannon waves. His heart was en-

larged and a third sound was audible. His bloodpressure was 115/65 mmHg. A radiograph of thechest showed a large heart with enlargement of bothatria and the left ventricle. Dr. Goodwin consideredthat he had a cardiomyopathy. He proposed ad-mission for further investigation, but the patientdied suddenly at home before this was arranged. Anecropsy was not performed.

CASE I.1; MALE No definite details are known aboutthis individual except that he suffered from muscularweakness. He died at the age of 38 years and his

death certificate records the cause of death as

paralysis. The family were aware that a male cousinof his also suffered from muscular paralysis andbecame confined to a wheel-chair.

DISCUSSION

Previous reports of patients with muscularinvolvement of scapuloperoneal distributionhave made it clear that there is often difficulty indeciding whether the process is myopathic or

neurogenic. Thus in the family reported byKaeser (1965), electromyography (EMG) on

case V.21 on one occasion yielded findingssuggestive of denervation and on another ofmyopathy. A muscle biopsy was considered toindicate myopathy. In case IV.8, on whom a

necropsy examination was performed, thehistological changes in affected muscles were

consistent with denervation atrophy, and theloss of anterior horn cells and of cells in thelower brain-stem motor nuclei was believed toprovide conclusive evidence of a neurogenic

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process. Also in another family in which thesame diagnosis was made (Ricker and Mertens,1968, case 1), EMG of the shoulder and upperarm muscles suggested myopathy, whereas, inthe lower leg, the appearances were those ofdenervation. Kaeser (1965) suggested that themyopathic changes in the EMG might be theresult of a degeneration of the motor neuronebeginning in a patchy manner in the nerveterminals at the periphery, leading to a thinningout of muscle fibres from the motor unit and thusproducing pseudo-myopathic appearances inthe EMG. The difficulty in deciding between amyopathic and neurogenic basis in cases of thescapuloperoneal syndrome has been stressed byFeigenbaum and Munsat (1970). Their seriesincluded cases with findings commonly attributedboth to neurogenic and myopathic processes.

In the present family, the EMG changes incase 111.2 were equivocal. The histologicalfindings in the muscles obtained at necropsy,however, undoubtedly favour a myopathy. It ispossible that secondary myopathic changes maydevelop as a consequence of long-standingdenervation (Brodal, Boyesen, and Frovig,1953; Haase and Shy, 1960; Drachman, Murphy,Nigam, and Hills, 1967). This is not likely to bethe explanation here, as mildly involved muscles,such as the psoas and the thenar muscles, showeda random arrangement of large and small fibreswithout any indication of grouping of the smallfibres. The spinal cord was not examined, butthe sciatic nerve showed no abnormality, despitethe fact that both the calf and the anterior tibialgroup muscles were severely affected. In thepropositus of this family (case IV.13), the EMGfindings were those of myopathy and not ofdenervation.The inheritance in the present family is almost

certainly of X-linked recessive pattern (Fig. 1).All affected individuals were male and the dis-order was transmitted by unaffected females.Transmission from an affected male (case I.1)through carrier females possibly occurred.Support for the view that the disorder is X-linkedis provided by the fact that all the affectedindividuals were colour blind, although this isnot entirely certain for case 111.2. A complicatingfeature is that cases IV.2 and IV.4, who were un-affected female and male children respectively ofan affected male (case 111.3), were both colourblind. It seems likely that their mother was acarrier for colour blindness; however, it waspossible to examine only one of her male rela-

tives, who had normal colour vision. In view ofthe linkage of the disorder with colour blind-ness, it is probable that case IV.2 is a carrier.There was no clinical evidence of Turner'ssyndrome (XO constitution): she was of normalstature and examination revealed none of theother features of this condition.As already mentioned, the weight of the evi-

dence in the present family suggests a myo-pathic disorder, although it cannot be con-sidered that this has been fully established. Thecommon form of X-linked muscular dystrophyis the Duchenne type and it is now clear that themore benign Becker type (Becker, 1957, 1962;Becker and Keiner, 1955) is a separate entity. Itis possible that the benign form is capable offurther subdivision (Shaw and Dreifuss, 1969).Mabry, Roeckel, Munich, and Robertson (1965)and Emery and Dreifuss (1966) described fami-lies for which it was felt that the clinical featureswere sufficiently different from the Becker typeto merit their being considered as separate formsof benign X-linked dystrophy.

Neither the Duchenne nor the Becker formsof muscular dystrophy are closely linked withcolour blindness. There is only a single definitedescription of genetic linkage between colourblindness and Duchenne dystrophy (Emery,1966). The family reported by Philip, Walton,and Smith (1956) as Duchenne dystrophy inwhich crossing-over with colour blindness wasdemonstrated is stated by Kloepfer and Emery(1969) to have a benign form of X-linkeddystrophy.

All these varieties have in common the initialinvolvement of proximal muscles. The presentfamily is distinct in displaying proximal involve-ment in the upper limbs and distal in the lower.The onset was in early childhood, probably at orbefore the age of 5 years in all instances, andprogression was uniformly slow. Contractures ofthe elbows were present in all except one case,and pes cavus in all. The limitation of neckflexion in the propositus was an interestingfinding. Pseudohypertrophy of muscle was con-spicuously absent, the affected muscles tendingto be of small bulk with a firm, rubbery consist-ence. Slight facial involvement was possible butnot definite. Cardiomyopathy was a feature ofthe three adult cases and was the probable causeof death in one of the two that died (case 111.2)and possibly also in the other (case 111.3). Thetwo young affected cases (IV.8 and 12) had noclinical evidence of cardiac disorder, but

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electrocardiograms were not obtained. It may besignificant that two affected individuals were ofsubnormal intelligence (cases IV.8 and 111.2) inview of the known occurrence of mental re-

tardation in some cases of muscular dystrophy(Allen and Rodgin, 1960; Worden and Vignos,1962).

Certain of the clinical features of this familyresemble those of the family described byEmery and Dreifuss (1966), in particular, theearly age of onset, the occurrence of contracturesof the elbows and of the calf muscles, the absenceof pseudo-hypertrophy, and the occurrence ofcardiomyopathy. As already emphasized, how-ever, the pattern of involvement of the skeletalmusculature was quite different.

We wish to thank Mr. Alec Benjamin for referringthe family, Dr. Gregory Stewart for helpful dis-cussion on the genetic aspects, and Miss AnnArmstrong for technical assistance. We are indebtedto Dr. M. K. Towers for information on case IV.13and Dr. T. L. Reeves and Dr. R. Hierons for detailsabout case 111.2. Professor P. M. Daniel, Dr. I.

Janota, and Dr. S. Strich kindly made available thenecropsy findings and allowed us to examine histo-logical material from this case. We are also indebtedto Dr. J. Purdon Martin for information about case111.3, and to Dr. R. G. Willison for electromyo-graphic studies on case IV.13. Finally, financialsupport from the Wellcome Trust and the MuscularDystrophy Group of Great Britain, and an equip-ment grant from the Medical Research Council, are

gratefully acknowledged.

REFERENCES

Allen, J. E., and Rodgin, D. W. (1960). Mental retardation inassociation with progressive muscular dystrophy. AmnericanzJournal of Diseases of Children, 100, 208-211.

Becker, P. E. (1957). Neue Ergebnisse der Genetik derMuskeldystrophien. Acta Genetica et Statistica Medica, 7,303-3 10.

Becker, P. E. (1962). Two new families of benign sex-linkedrecessive muscular dystrophy. Revue Canadientne de Biologie,21, 551-566.

Becker, P. F., and Keiner, F. (1955). Eine neue X-chromo-somale Muskeldystrophie. Archiv fur Psychiatrie untidNervenkrankheiten vereinigt mit Zeitschrift fiir die gesamtiteNeurologie und Psychiatrie, 193, 427-448.

Brodal, A., Boyesen, S., and Frbvig, A. G. (1953). Progres-sive neuropathic (peroneal) muscular atrophy (Charcot-Marie-Tooth disease). Histological findings in musclebiopsy specimens in fourteen cases, with notes on clinicaldiagnosis and familial occurrence. Archives of Neurologyand Psychiatry, 70, 1-29.

Brossard, J. (1886). Etude Clinique sur utne Fortmze Hereditaired'Atrophie Musculaire Progressive Debutant par les MembresInferieurs (Type Femnoral av ec Griffes des Orteils). Steinheil:Paris.

Dawidenkow, S. (1927). fiber die neurotische Muskel-

atrophie Charcot-Marie. Klinisch-genetische Studien.Zeitschriftfiir die gesamte Neurologie und Psychiatrie, 107,259-320.

Dawidenkow, S. (1929). Ober die scapulo-peroneal Amyo-trophie. Zeitschriftfiir die gesamte Neurologie und Psychiat-rie, 122, 628-650.

Dawidenkow, S. (1939). Scapuloperoneal amyotrophy.Archives of Neurology and Psychiatry, 41, 694-701.

Drachman, D. B., Murphy, S. R., Nigam, M. P., and Hills,J. R. (1967). 'Myopathic' changes in chronically denervatedmuscle. Archives of Neurology, 16, 14-24.

Eisenlohr, C. (1889). Ueber progressive muskelatrophie.Neurologisches Zentralblatt, 8, 564-565.

Emery, A. E. H. (1966). Genetic linkage between the loci forcolour blindness and Duchenne type muscular dystrophy.Journal of Medical Genietics, 3, 92-95.

Emery, A. E. H., and Dreifuss, F. E. (1966). Unusual type ofbenign X-linked muscular dystrophy. Journal ofNeurology,Neurosurgery, and Psychiatry, 29, 338-342.

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X-linked scapuloperoneal syndrome - BMJThe inheritance was of X-linked recessive pattern and the disorder was linked with colour blindness. CASEREPORTS Thepedigree ofthe family is