Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

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Item Type:	Article
Title:	Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
Creators Name:	Knoblauch, H., Geier, C., Adams, S., Budde, B., Rudolph, A., Zacharias, U., Schulz-Menger, J., Spuler, A., Yaou, R.B., Nuernberg, P., Voit, T., Bonne, G. and Spuler, S.
Abstract:	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 identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes.
Keywords:	Hypertrophic Cardiomyopathy, Contracture, Germany, Intracellular Signaling Peptides and Proteins, Linkage (Genetics), Microsatellite Repeats, Muscle Proteins, Missense Mutation, Pedigree, Phenotype, DNA Sequence Analysis, Amino Acid Sequence Homology, Sex Factors
Source:	Annals of Neurology
ISSN:	0364-5134
Publisher:	Wiley
Volume:	67
Number:	1
Page Range:	136-140
Date:	January 2010
Official Publication:	https://doi.org/10.1002/ana.21839
PubMed:	View item in PubMed

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