Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Ann Neurol
; 67(1): 136-40, 2010 Jan.
Article
em En
| MEDLINE
| ID: mdl-20186852
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Hipertrófica
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Contratura
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Mutação de Sentido Incorreto
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Peptídeos e Proteínas de Sinalização Intracelular
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Proteínas Musculares
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
País/Região como assunto:
Europa
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Alemanha