Dysferlinopathy, with mild cardiac involvement, from a novel mutation of DYSF gene.

Shen, J Y; Prasad, K; Goh, L L; Angkodjojo, S; Khoo, C Y; Umapathi, T

Shen, J Y; Prasad, K; Goh, L L; Angkodjojo, S; Khoo, C Y; Umapathi, T.

Afiliação

Shen JY; From the Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, 308433, Singapore.
Prasad K; From the Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, 308433, Singapore.
Goh LL; Molecular Diagnostic Laboratory, Personalized Medicine Service, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, 308433, Singapore.
Angkodjojo S; Department of General Medicine (Rheumatology), Sengkang General Hospital, 110 Sengkang E Way, 544886, Singapore.
Khoo CY; Department of Cardiology, National Heart Centre, 5 Hospital Dr, 169609, Singapore.
Umapathi T; From the Department of Neurology, National Neuroscience Institute, 11 Jalan Tan Tock Seng, 308433, Singapore.

QJM ; 116(6): 453-454, 2023 06 08.

Article em En | MEDLINE | ID: mdl-36610451

Assuntos

Distrofia Muscular do Cíngulo dos Membros; Humanos; Disferlina/genética; Proteínas de Membrana/genética; Músculo Esquelético; Distrofia Muscular do Cíngulo dos Membros/diagnóstico; Distrofia Muscular do Cíngulo dos Membros/genética; Mutação

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofia Muscular do Cíngulo dos Membros Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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