Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
Neurology
; 59(4): 613-7, 2002 Aug 27.
Article
en En
| MEDLINE
| ID: mdl-12196661
The alpha-tropomyosin-3 (TPM3) gene was screened in 40 unrelated patients with nemaline myopathy (NM). A single compound heterozygous patient was identified carrying one mutation that converts the stop codon to a serine and a second splicing mutation that is predicted to prevent inclusion of skeletal muscle exon IX. TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. The severity of cases with TPM3 mutations may vary from severe infantile to late childhood onset, slowly progressive forms.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Tropomiosina
/
Miopatías Nemalínicas
/
Fibras Musculares de Contracción Lenta
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Año:
2002
Tipo del documento:
Article
País de afiliación:
Estados Unidos
Pais de publicación:
Estados Unidos