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

作者信息

Muranaka H, Osari S, Fujita H, Kimura Y, Goto A, Imoto C, Nonaka I

机构信息

Department of Pediatrics, Hirosaki University School of Medicine, Japan.

出版信息

Brain Dev. 1997 Jul;19(5):362-5. doi: 10.1016/s0387-7604(97)00036-3.

DOI:10.1016/s0387-7604(97)00036-3
PMID:9253491
Abstract

A 12-month-old girl with delayed developmental milestones, due to muscle hypotonia and weakness from early infancy, exhibited type 2 fiber hypoplasia. A muscle biopsy specimen disclosed type 1 fiber predominance and type 2B fiber deficiency compatible with congenital myopathy. During the following 4 years, she continued to have mild muscle weakness, but no mental retardation. Her mother had similar symptoms from early infancy with minimal progression. Although type 2 fiber hypoplasia is a non-specific finding in various diseases, it may be a specific finding in a limited number of patients with hereditary congenital non-progressive myopathy.

摘要

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