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Article

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.

Human mutation - 1 Feb 2010

Lawlor Michael W, Dechene Elizabeth T, Roumm Emily, Geggel Amelia S, Moghadaszadeh Behzad, Beggs Alan H

Abstract excerpt

Congenital fiber type disproportion (CFTD) is a rare congenital myopathy characterized by hypotonia and generalized muscle weakness. Pathologic diagnosis of CFTD is based on the presence of type 1 fiber hypotrophy of at least 12% in the absence of other notable pathological findings. Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases. The muscle tropomyosin 3 gene,...

Topics

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Child
Genetic Predisposition to Disease
Infant
Infant, Newborn
Muscle Fibers, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myopathies, Nemaline

Myopathies, Structural, Congenital

Source

Open in PubMed Open full text

Identifiers

PMID: 19953533
DOI: 10.1002/humu.21157
PMCID: PMC2815199

Genes

TPM3
ACTA1

Provenance

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

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Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.PMID 19953533Read ↗

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Mutations in <i>TPM3</i> are a common cause of congenital fiber type disproportionSemantic proximity Read ↗

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

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.Semantic proximity Read ↗

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

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