POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Biochem Biophys Res Commun
; 363(4): 1033-7, 2007 Nov 30.
Article
em En
| MEDLINE
| ID: mdl-17923109
ABSTRACT
Defects in glycosylation of alpha-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. We identified a POMT2 homozygous missense mutation in a girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular do Cíngulo dos Membros
/
Manosiltransferases
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Biochem Biophys Res Commun
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Itália