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Case Reports
. 1996 May;12(5):262-5.
doi: 10.1007/BF00261807.

Congenital myopathy with type II muscle fiber hypoplasia

M Castro-Gago  1 , I Novo-Rodríguez, E P Martínez, A B Iglesias, J E Puñal
Affiliations
Case Reports

Congenital myopathy with type II muscle fiber hypoplasia

M Castro-Gago et al. Childs Nerv Syst. 1996 May.

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.

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