title: Congenital myopathy with type II muscle fiber hypoplasia.
abstract: 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.
authors: Departamento de Pediatría, Hospital General de Galicia, Clínico-Universitario, Santiago de Compostela, Spain.
authors: M
authors: M
authors: Castro-Gago
authors: I
authors: I
authors: Novo-Rodríguez
authors: E P
authors: EP
authors: Martínez
authors: A B
authors: AB
authors: Iglesias
authors: J E
authors: JE
authors: Puñal
mesh_terms: 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