A new phenotype of autosomal dominant nemaline myopathy.
Neuromuscul Disord
; 12(1): 13-8, 2002 Jan.
Article
en En
| MEDLINE
| ID: mdl-11731279
ABSTRACT
We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin). Although there was muscle weakness in the neck flexors and proximal muscles of the limbs, as found in other families, facial, ankle dorsiflexor and respiratory muscles were normal. The most remarkable clinical feature was a peculiar kind of slowness in movement not reported previously in nemaline myopathy.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Miopatías Nemalínicas
Límite:
Adult
/
Aged
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neuromuscul Disord
Asunto de la revista:
NEUROLOGIA
Año:
2002
Tipo del documento:
Article
País de afiliación:
Países Bajos