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Article

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.

The Journal of clinical investigation - 1 Mar 2008

Schessl Joachim, Zou Yaqun, McGrath Meagan J, Cowling Belinda S, Maiti Baijayanta, Chin Steven S, Sewry Caroline, Battini Roberta, Hu Ying, Cottle Denny L, Rosenblatt Michael, Spruce Lynn, Ganguly Arupa, Kirschner Janbernd, Judkins Alexander R, Golden Jeffrey A, Goebel Hans-Hilmar, Muntoni Francesco, Flanigan Kevin M, Mitchell Christina A, Bönnemann Carsten G

Abstract excerpt

Reducing body myopathy (RBM) is a rare disorder causing progressive muscular weakness characterized by aggresome-like inclusions in the myofibrils. Identification of genes responsible for RBM by traditional genetic approaches has been impossible due to the frequently sporadic occurrence in affect...

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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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Source

Open in PubMed Open full text

Identifiers

PMID: 18274675
DOI: 10.1172/JCI34450
PMCID: PMC2242623

Genes

FHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18274675-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.PMID 18274675Read ↗

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A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.Semantic proximity Read ↗

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