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Article

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Neuromuscular disorders : NMD - 1 Mar 2014

Pfeffer Gerald, Sambuughin Nyamkhishig, Olivé Montse, Tyndel Felix, Toro Camilo, Goldfarb Lev G, Chinnery Patrick F

Abstract excerpt

Hereditary myopathy with early respiratory failure is an autosomal dominant myopathy caused by mutations in the 119th fibronectin-3 domain of titin. To date all reported patients with the most common mutation in this domain (p.C30071R) appear to share ancestral disease alleles. We undertook this study of two families with the p.C30071R mutation to determine whether they share the same haplotype as previously...

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Source

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Identifiers

PMID: 24444549
DOI: 10.1016/j.nmd.2013.12.001
PMCID: PMC3988992

Variants

rs191484894

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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