Journal
ANNALS OF NEUROLOGY
Volume 67, Issue 1, Pages 136-140Publisher
WILEY
DOI: 10.1002/ana.21839
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- Deutsche Forschungsgemeinschaft (DFG) [KFO 192, SP1152/8-1, LU435/10-1]
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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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