'Cap myopathy': case report of a family.
We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed with a severe nemaline myopathy at age 4 years. A muscle biopsy performed on both siblings revealed histological and ultrastructural features of 'cap myopathy'. This case report suggests that 'cap myopathy' and some cases of nemaline myopathy with neonatal onset might be two phenotypic expressions of the same genetic disorder. These two entities could therefore, perhaps, be regarded as 'Z-line disorders' possibly caused by defective myofibrillogenesis.
Service de Neuropédiatrie, Centre hospitalier régional universitaire et faculté de médecine, 59037 Lille, France. jm-cuisset@chru-lille.fr
J M
JM
Cuisset
C A
CA
Maurage
J F
JF
Pellissier
A
A
Barois
J A
JA
Urtizberea
N
N
Laing
H
H
Tajsharghi
L
L
Vallée
D000199:Actins / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D017696:Myopathies, Nemaline / Q000175:diagnosis* / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics; D010375:Pedigree
D000199:Actins; D018995:Myosin Heavy Chains