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Article

Effects of pathogenic proline mutations on myosin assembly.

Journal of molecular biology - 3 Feb 2012

Buvoli Massimo, Buvoli Ada, Leinwand Leslie A

Abstract excerpt

Laing distal myopathy (MPD1) is a genetically dominant myopathy characterized by early and selective weakness of the distal muscles. Mutations in the MYH7 gene encoding for the β-myosin heavy chain are the underlying genetic cause of MPD1. However, their pathogenic mechanisms are currently unknown. Here, we measure the biological effects of the R1500P and L1706P MPD1 mutations in different cellular systems. We...

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Source

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Identifiers

PMID: 22155079
DOI: 10.1016/j.jmb.2011.11.042
PMCID: PMC3267876

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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