A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of &#945;-dystroglycan glycosylation.

Saredi, S; Gibertini, S; Ardissone, A; Fusco, I; Zanotti, S; Blasevich, F; Morandi, L; Moroni, I; Mora, M

A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.

Saredi, S; Gibertini, S; Ardissone, A; Fusco, I; Zanotti, S; Blasevich, F; Morandi, L; Moroni, I; Mora, M.

Afiliação

Saredi S; Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
Gibertini S; Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
Ardissone A; Department of Child Neurology, Neurological Institute C. Besta, Milano, Italy.
Fusco I; Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
Zanotti S; Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
Blasevich F; Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
Morandi L; Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy.
Moroni I; Department of Child Neurology, Neurological Institute C. Besta, Milano, Italy.
Mora M; Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy. Electronic address: mmora@istituto-besta.it.

Eur J Paediatr Neurol ; 18(3): 404-8, 2014 May.

Article em En | MEDLINE | ID: mdl-24183756

Assuntos

Distroglicanas/genética; Manosiltransferases/genética; Músculo Esquelético/patologia; Distrofia Muscular do Cíngulo dos Membros/genética; Mutação/genética; Adolescente; Distroglicanas/metabolismo; Feminino; Glicosilação; Humanos; Distrofia Muscular do Cíngulo dos Membros/diagnóstico; Distrofia Muscular do Cíngulo dos Membros/metabolismo

Palavras-chave

Congenital muscular dystrophy; Limb girdle muscular dystrophy; POMT2; α-Dystroglycan glycosylation; α-Dystroglycanopathy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Músculo Esquelético / Distrofia Muscular do Cíngulo dos Membros / Distroglicanas / Manosiltransferases / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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