A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.
Nat Genet
; 9(1): 75-9, 1995 Jan.
Article
em En
| MEDLINE
| ID: mdl-7704029
ABSTRACT
Nemaline myopathies are diseases characterized by the presence in muscle fibres of pathognomonic rod bodies. These are composed largely of alpha-actinin and actin. We have identified a missense mutation in the alpha-tropomyosin gene, TPM3, which segregates completely with the disease in a family whose autosomal dominant nemaline myopathy we had previously localized to chromosome 1p13-q25. The mutation substitutes an arginine residue for a highly conserved methionine in a putative actin-binding site near the N terminus of the alpha-tropomyosin. The mutation may strengthen tropomyosin - actin binding, leading to rod body formation, by adding a further basic residue to the postulated actin-binding motif.
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Base de dados:
MEDLINE
Assunto principal:
Tropomiosina
/
Mutação Puntual
/
Miopatias da Nemalina
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article