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Article

Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.

Neuromuscular disorders : NMD - 1 Dec 2013

Malfatti Edoardo, Schaeffer Ursula, Chapon Françoise, Yang Yage, Eymard Bruno, Xu Ran, Laporte Jocelyn, Romero Norma B

Abstract excerpt

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...

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Share to Cardiomyopathy and Myosin Studies
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Electron, Transmission

Share to Muscle, Skeletal

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Share to Myopathies, Nemaline

Share to Myopathies, Structural, Congenital

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Source

Identifiers

PMID: 24095155
DOI: 10.1016/j.nmd.2013.07.003

Genes

TPM3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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