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A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion.
Takahashi, Yoshiaki; Morimoto, Nobutoshi; Nada, Tomoaki; Morimoto, Mizuki; Eura, Nobuyuki; Minami, Narihiro; Nishino, Ichizo.
Afiliação
  • Takahashi Y; Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan.
  • Morimoto N; Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan.
  • Nada T; Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan.
  • Morimoto M; Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan.
  • Eura N; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Minami N; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
J Neuromuscul Dis ; 10(3): 459-463, 2023.
Article em En | MEDLINE | ID: mdl-36847015
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Oculofaríngea Limite: Aged / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular Oculofaríngea Limite: Aged / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article