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Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.
Helbling, Daniel C; Mendoza, David; McCarrier, Julie; Vanden Avond, Mark A; Harmelink, Matthew M; Barkhaus, Paul E; Basel, Donald; Lawlor, Michael W.
Afiliação
  • Helbling DC; Human Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Mendoza D; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Vanden Avond MA; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Harmelink MM; Department of Neurology, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Barkhaus PE; Department of Neurology, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Basel D; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.
  • Lawlor MW; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
J Neuropathol Exp Neurol ; 78(3): 283-287, 2019 03 01.
Article em En | MEDLINE | ID: mdl-30715496

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Canal de Liberação de Cálcio do Receptor de Rianodina / Doenças Musculares / Distrofias Musculares Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Índice de Gravidade de Doença / Canal de Liberação de Cálcio do Receptor de Rianodina / Doenças Musculares / Distrofias Musculares Limite: Humans / Male / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article