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Article

Consequences of mutations within the C terminus of the FHL1 gene.

Neurology - 18 Aug 2009

Schoser B, Goebel H H, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C

Abstract excerpt

BACKGROUND: Mutations in the four-and-a-half LIM domain 1 gene (FHL1) cause X-linked late-onset scapuloaxioperoneal myopathy characterized by postural muscle atrophy with rigid spine syndrome with pseudoathleticism/hypertrophy (XMPMA), reducing body myopathy (RBM), and scapuloperoneal myopathy. Divergences in these diseases are hitherto unclear; therefore, we searched for additional families to elucidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intracellular Signaling Peptides and Proteins

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Share to Muscle, Skeletal

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Source

Identifiers

PMID: 19687455
DOI: 10.1212/WNL.0b013e3181b2a4b3

Genes

FHL1

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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