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Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
- Source :
-
Annals of neurology [Ann Neurol] 2010 Jan; Vol. 67 (1), pp. 136-40. - Publication Year :
- 2010
-
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.
- Subjects :
- Adolescent
Adult
Cardiomyopathy, Hypertrophic pathology
Child
Contracture pathology
Family
Female
Genetic Linkage
Germany
Humans
LIM Domain Proteins
Male
Microsatellite Repeats
Middle Aged
Pedigree
Phenotype
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Sex Factors
Young Adult
Cardiomyopathy, Hypertrophic genetics
Contracture genetics
Intracellular Signaling Peptides and Proteins genetics
Muscle Proteins genetics
Mutation, Missense
Subjects
Details
- Language :
- English
- ISSN :
- 1531-8249
- Volume :
- 67
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Annals of neurology
- Publication Type :
- Academic Journal
- Accession number :
- 20186852
- Full Text :
- https://doi.org/10.1002/ana.21839