Null variants in DYSF result in earlier symptom onset.

Park, Hyung Jun; Hong, Young Bin; Hong, Ji-Man; Yun, UnKyu; Kim, Seung Woo; Shin, Ha Young; Kim, Seung Min; Choi, Young-Chul

Park, Hyung Jun; Hong, Young Bin; Hong, Ji-Man; Yun, UnKyu; Kim, Seung Woo; Shin, Ha Young; Kim, Seung Min; Choi, Young-Chul.

Afiliação

Park HJ; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Hong YB; Department of Biochemistry, College of Medicine, Dong-A University, Busan, South Korea.
Hong JM; Department of Neurology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin, South Korea.
Yun U; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Kim SW; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Shin HY; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Kim SM; Department of Neurology, Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
Choi YC; Department of Neurology, Rehabilitation Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.

Clin Genet ; 99(3): 396-406, 2021 03.

Article em En | MEDLINE | ID: mdl-33215690

Assuntos

Miopatias Distais/genética; Disferlina/genética; Variação Genética; Mutação com Perda de Função; Atrofia Muscular/genética; Distrofia Muscular do Cíngulo dos Membros/genética; Adolescente; Adulto; Idade de Início; Povo Asiático/genética; Análise Mutacional de DNA; Feminino; Estudos de Associação Genética; Humanos; Masculino; Pessoa de Meia-Idade; Taxa de Mutação; Estudos Retrospectivos; Adulto Jovem

Palavras-chave

Miyoshi myopathy; dysferlin; dysferlinopathy; genetic profile; limb-girdle muscular dystrophy; type 2B

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Atrofia Muscular / Miopatias Distais / Distrofia Muscular do Cíngulo dos Membros / Disferlina / Mutação com Perda de Função Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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