Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041707 | Neuromuscular Disorders | 2013 | 6 Pages |
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'.
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Authors
Edoardo Malfatti, Ursula Schaeffer, Françoise Chapon, Yage Yang, Bruno Eymard, Ran Xu, Jocelyn Laporte, Norma B. Romero,