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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Authors | Hans Knoblauch, 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 |
Journal | Annals of neurology
(Ann Neurol)
Vol. 67
Issue 1
Pg. 136-40
(Jan 2010)
ISSN: 1531-8249 [Electronic] United States |
PMID | 20186852
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- FHL1 protein, human
- Intracellular Signaling Peptides and Proteins
- LIM Domain Proteins
- Muscle Proteins
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Topics |
- Adolescent
- Adult
- Cardiomyopathy, Hypertrophic
(genetics, pathology)
- Child
- Contracture
(genetics, pathology)
- Family
- Female
- Genetic Linkage
- Germany
- Humans
- Intracellular Signaling Peptides and Proteins
(genetics)
- LIM Domain Proteins
- Male
- Microsatellite Repeats
- Middle Aged
- Muscle Proteins
(genetics)
- Mutation, Missense
- Pedigree
- Phenotype
- Sequence Analysis, DNA
- Sequence Homology, Amino Acid
- Sex Factors
- Young Adult
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