Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in <i>SCN4A</i>.

Elia, Nathaniel; Nault, Trystan; McMillan, Hugh J; Graham, Gail E; Huang, Lijia; Cannon, Stephen C

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.

Elia, Nathaniel; Nault, Trystan; McMillan, Hugh J; Graham, Gail E; Huang, Lijia; Cannon, Stephen C.

Afiliação

Elia N; Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.
Nault T; Molecular, Cellular, and Integrative Physiology Program, UCLA, Los Angeles, CA, United States.
McMillan HJ; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Graham GE; Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Huang L; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
Cannon SC; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.

Front Neurol ; 11: 77, 2020.

Article em En | MEDLINE | ID: mdl-32117035

Palavras-chave

NaV1.4; channelopathy; myotonia; skeletal muscle; sodium channel; voltage-clamp

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

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