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Article

Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.

Neuromuscular disorders : NMD - 1 Sept 2016

Ferbert A, Zibat A, Rautenstrauß B, Kress W, Hügens-Penzel M, Weis J, Shah Y, Roth C

Abstract excerpt

We investigated a four-generation family of German ancestry with distal myopathy. Four individuals in two generations were affected. Foot and toe extensor paresis progressing very slowly over decades was the core neurological sign, reflected by fatty infiltration of the lower leg extensor muscles on muscle MRI. Additionally, finger extensor paresis was present in two patients and quadriceps muscle paresis in one....

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Source

Identifiers

PMID: 27469267
DOI: 10.1016/j.nmd.2016.06.458

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.PMID 27469267Read ↗

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Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.Semantic proximity Read ↗

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutationsSemantic proximity Read ↗

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.Semantic proximity Read ↗

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A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patientSemantic proximity Read ↗

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).Semantic proximity Read ↗

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