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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

Item Type:Article
Title:Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
Creators Name:Knoblauch, H. and Geier, C. and Adams, S. and Budde, B. and Rudolph, A. and Zacharias, U. and Schulz-Menger, J. and Spuler, A. and Yaou, R.B. and Nuernberg, P. and Voit, T. and 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 (U.S.A.)
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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