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Article

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.

BMC medical genetics - 11 Sept 2013

Ardissone Anna, Bragato Cinzia, Caffi Lorella, Blasevich Flavia, Maestrini Sabrina, Bianchi Maria Luisa, Morandi Lucia, Moroni Isabella, Mora Marina

Abstract excerpt

BACKGROUND: Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. In CGL4, symptoms are variable comprising, in addition to myopathy, smooth and skeletal muscle hypertrophy, cardiac arrhythmias, and skeletal abnormalitie...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24024685
DOI: 10.1186/1471-2350-14-89
PMCID: PMC3846852

Genes

CAV3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24024685-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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