Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

doi:10.1097/NEN.0b013e3182a23506

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Article

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.

Journal of neuropathology and experimental neurology - 1 Sept 2013

Malfatti Edoardo, Olivé Montse, Taratuto Ana Lía, Richard Pascale, Brochier Guy, Bitoun Marc, Gueneau Lucie, Laforêt Pascal, Stojkovic Tanya, Maisonobe Thierry, Monges Soledad, Lubieniecki Fabiana, Vasquez Gabriel, Streichenberger Nathalie, Lacène Emmanuelle, Saccoliti Maria, Prudhon Bernard, Alexianu Marilena, Figarella-Branger Dominique, Schessl Joachim, Bonnemann Carsten, Eymard Bruno, Fardeau Michel, Bonne Gisèle, Romero Norma Beatriz

Abstract excerpt

FHL1 mutations have been associated with various disorders that include reducing body myopathy (RBM), Emery-Dreifuss-like muscular dystrophy, isolated hypertrophic cardiomyopathy, and some overlapping conditions. We report a detailed histochemical, immunohistochemical, electron microscopic, and immunoelectron microscopic analyses of muscle biopsies from 18 patients carrying mutations in FHL1: 14 RBM patients...

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Identifiers

PMID: 23965743
DOI: 10.1097/NEN.0b013e3182a23506
PMCID: PMC5210222

Genes

FHL1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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