Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type.
We report two opposite-sex siblings with the severe infantile form of nemaline myopathy; diagnoses were made on muscle biopsy. Neither parent showed clinical or electromyographic evidence of myopathy, and both had negative muscle biopsies. Autosomal recessive inheritance seems likely.
Cartwright
J D
JD
Department of Paediatrics, Johannesburg Hospital, South Africa.
Castle
D J
DJ
Duffield
M G
MG
Reef
I
I
D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology