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Article

Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.

Neurology - 29 Nov 2011

Selcen Duygu, Bromberg Mark B, Chin Steven S, Engel Andrew G

Abstract excerpt

OBJECTIVE: Some pathologic features of the FHL1 myopathies and the myofibrillar myopathies (MFMs) overlap; we therefore searched for mutations in FHL1 in our cohort of 50 patients with genetically undiagnosed MFM. METHODS: Mutations in FHL1 were identified by direct sequencing. Polymorphisms were excluded by using allele-specific PCR in 200 control subjects. Structural changes in muscle were analyzed by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22094483
DOI: 10.1212/WNL.0b013e31823a0ebe
PMCID: PMC3235356

Genes

FHL1
LIM2

Provenance

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

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