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Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.
Mihaylova, Violeta; Chablais, Fabian; Herenger, Yvan; Spiegel, Roland; Heinrich Jung, Hans.
Afiliação
  • Mihaylova V; Department of Neurology (V.M., H.H.J.), University Hospital and University of Zurich; and Genetica (F.C., Y.H., R.S.), Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.
  • Chablais F; Department of Neurology (V.M., H.H.J.), University Hospital and University of Zurich; and Genetica (F.C., Y.H., R.S.), Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.
  • Herenger Y; Department of Neurology (V.M., H.H.J.), University Hospital and University of Zurich; and Genetica (F.C., Y.H., R.S.), Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.
  • Spiegel R; Department of Neurology (V.M., H.H.J.), University Hospital and University of Zurich; and Genetica (F.C., Y.H., R.S.), Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.
  • Heinrich Jung H; Department of Neurology (V.M., H.H.J.), University Hospital and University of Zurich; and Genetica (F.C., Y.H., R.S.), Human Genetics and Genetic Counselling Unit, Zurich, Switzerland.
Neurol Genet ; 6(4): e458, 2020 Aug.
Article em En | MEDLINE | ID: mdl-32637634

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article