期刊
NEUROMUSCULAR DISORDERS
卷 23, 期 12, 页码 992-997出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2013.07.003
关键词
Congenital structural myopathies; Nemaline myopathies; Cap disease; Exome sequencing
资金
- Assistance Publique-Hopitaux de Paris (AP-HP)
- Institut National de la Sante et de la Recherche Medicale (INSERM)
- Association Francaise contre les Myopathies (AFM)
- Association Institut de Myologie (AIM)
- Agence Nationale de la Recherche [ANR-11-BSV1-026]
The slow a-tropomyosin gene (TPM3) has been associated with three distinct histological entities: nemaline myopathy (NM, NEM1), congenital fibre-type disproportion (CFTD), and cap disease (CD). Here we describe a patient presenting an early-onset congenital myopathy associated with a combination of well separated cap structures and nemaline bodies in his muscle biopsy. Exome sequencing analysis allowed us to identify a de novo missense mutation in the TPM3 gene. Our study confirms the extreme variability of morphological findings in TPM3-related myopathies, and proves that cap and nemaline bodies are two sides of the same 'coin'. (C) 2013 Elsevier B.V. All rights reserved.
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