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Article

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

Neuromuscular disorders : NMD - 1 Oct 2018

Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz M I, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C

Abstract excerpt

MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P)...

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Source

Identifiers

PMID: 30166250
DOI: 10.1016/j.nmd.2018.07.006

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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