Congenital myopathy with type II muscle fiber hypoplasia.
An unusual congenital neuromuscular disease characterized by atypically small type II muscle fibers is reported. The patients were a 9-year-old boy and a 3-year-old boy, both of whom showed motor retardation with proximal muscle wasting and hypotonia. Muscle biopsy revealed hypoplastic type II fibers and normal type I fibers. The observed hypoplasia seems to be a primary alteration.
Castro-Gago
M
M
Departamento de Pediatría, Hospital General de Galicia, Clínico-Universitario, Santiago de Compostela, Spain.
Novo-Rodríguez
I
I
Martínez
E P
EP
Iglesias
A B
AB
Puñal
J E
JE
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D008854:Microscopy, Electron; D018656:Muscle Fibers, Fast-Twitch / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology; D009460:Neurologic Examination; D009468:Neuromuscular Diseases / Q000151:congenital* / Q000473:pathology