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. 2010 Jan;67(1):136-40.
doi: 10.1002/ana.21839.

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

Hans Knoblauch  1 , Christian Geier, Stephanie Adams, Birgit Budde, André Rudolph, Ute Zacharias, Jeannette Schulz-Menger, Andreas Spuler, Rabah Ben Yaou, Peter Nürnberg, Thomas Voit, Gisele Bonne, Simone Spuler
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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

Hans Knoblauch et al. Ann Neurol. 2010 Jan.

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.

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