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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
Author(s) -
Knoblauch Hans,
Geier Christian,
Adams Stephanie,
Budde Birgit,
Rudolph André,
Zacharias Ute,
SchulzMenger Jeannette,
Spuler Andreas,
Yaou Rabah Ben,
Nürnberg Peter,
Voit Thomas,
Bonne Gisele,
Spuler Simone
Publication year - 2010
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21839
Subject(s) - missense mutation , muscle contracture , locus (genetics) , genetics , atrophy , phenotype , hypertrophic cardiomyopathy , muscle biopsy , genetic linkage , biology , cardiomyopathy , muscle atrophy , muscular dystrophy , gene , pathology , medicine , anatomy , biopsy , heart failure
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. ANN NEUROL 2010;67:136–140
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