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Article

Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern.

Neuromuscular disorders : NMD - 1 Aug 2022

Bevilacqua Jorge A, Contreras Juan Pablo, Trangulao Alejandra, Hernández Úrsula, Brochier Guy, Díaz Jorge, Hughes Ricardo, Campero Mario, Romero Norma B

Abstract excerpt

Tropomyosin 3 (TPM3) gene mutations associate with autosomal dominant and recessive nemaline myopathy 1 (NEM1), congenital fiber type disproportion myopathy (CFTD) and cap myopathy (CAPM1), and a combination of caps and nemaline bodies. We report on a 47-year-old man with polyglobulia, restricted vital capacity and mild apnea hypopnea syndrome, requiring noninvasive ventilation. Physical assessment revealed...

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Muscle, Skeletal
Mutation
Myopathies, Nemaline
Myopathies, Structural, Congenital
Tropomyosin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35688744
DOI: 10.1016/j.nmd.2022.05.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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