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Article

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.

Annals of neurology - 1 Jan 2010

Knoblauch Hans, Geier Christian, Adams Stephanie, Budde Birgit, Rudolph André, Zacharias Ute, Schulz-Menger Jeannette, Spuler Andreas, Yaou Rabah Ben, Nürnberg Peter, Voit Thomas, Bonne Gisele, Spuler Simone

Abstract excerpt

We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20186852
DOI: 10.1002/ana.21839

Genes

FHL1

Variants

Provenance

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