1.
Nefrologia
; 30(1): 134-5, 2010.
Artigo
em Espanhol
| MEDLINE
| ID: mdl-20098479
2.
Childs Nerv Syst
; 12(5): 262-5, 1996 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-8737802
RESUMO
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.