Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.
Neuromuscul Disord
; 16(9-10): 548-52, 2006 Oct.
Article
en En
| MEDLINE
| ID: mdl-16945537
ABSTRACT
We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a "de novo" missense heterozygous mutation a>g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13+/-3% less than normal and the affinity of actin for the Z-line protein alpha-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Actinas
/
Miopatías Nemalínicas
/
Músculo Esquelético
/
Mutación Missense
/
Cardiomiopatía Hipertrófica Familiar
/
Miocardio
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2006
Tipo del documento:
Article
País de afiliación:
Italia