Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene
- PMID: 24095155
- DOI: 10.1016/j.nmd.2013.07.003
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene
Abstract
The slow α-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'.
Keywords: Cap disease; Congenital structural myopathies; Exome sequencing; Nemaline myopathies.
Copyright © 2013 Elsevier B.V. All rights reserved.
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