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Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance

✍ Scribed by Hideki Muranaka; Shin-ichi Osari; Hiroshi Fujita; Yoshiharu Kimura; Akira Goto; Chikako Imoto; Ikuya Nonaka

Book ID
117545713
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
541 KB
Volume
19
Category
Article
ISSN
0387-7604

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πŸ“œ SIMILAR VOLUMES

Congenital myopathy with type II muscle
Congenital myopathy with type II muscle fiber hypoplasia
✍ M. Castro-Gago; I. Novo-RodrΓ­guez; E. Pintos MartΓ­nez; A. Beiras Iglesias; J. Ei πŸ“‚ Article πŸ“… 1996 πŸ› Springer 🌐 English βš– 926 KB

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 fiber