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Congenital myopathy with type II muscle fiber hypoplasia

✍ Scribed by M. Castro-Gago; I. Novo-Rodríguez; E. Pintos Martínez; A. Beiras Iglesias; J. Eirís Puñal

Publisher
Springer
Year
1996
Tongue
English
Weight
926 KB
Volume
12
Category
Article
ISSN
0256-7040

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✦ Synopsis

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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