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Article

Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.

Journal of the neurological sciences - 15 Jul 2012

Komagamine Tomoko, Kawai Mitsuru, Kokubun Norito, Miyatake Satoko, Ogata Katsuhisa, Hayashi Yukiko K, Nishino Ichizo, Hirata Koichi

Abstract excerpt

Mutations in the four-and-a-half LIM domains 1 gene (fhl1) are associated with various phenotypes of hereditary myopathies, including reducing body myopathy. We describe here a mother, daughter and son suffering from FHL1 myopathy with a mutation in the second LIM domain of fhl1. We investigated whether there is a characteristic muscle involvement in both sexes. Despite the variety of symptoms exhibited by the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22541254
DOI: 10.1016/j.jns.2012.04.007

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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