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Article

Congenital myopathy is caused by mutation of HACD1.

Human molecular genetics - 20 Dec 2013

Muhammad Emad, Reish Orit, Ohno Yusuke, Scheetz Todd, Deluca Adam, Searby Charles, Regev Miriam, Benyamini Lilach, Fellig Yakov, Kihara Akio, Sheffield Val C, Parvari Ruti

Abstract excerpt

Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myopathies, Structural, Congenital

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Source

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Identifiers

PMID: 23933735
DOI: 10.1093/hmg/ddt380
PMCID: PMC3842179

Genes

HACD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23933735-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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