Congenital Myopathy Due to Pathogenic Missense Variant in the <i>MYBPC1</i> Gene.

Bhandari, Vinaya; Kim, Raymond; Faghfoury, Hanna; Silver, Josh; Chan, Raymond H; Ding, Qiliang; Schwartz, Marci L B; Bril, Vera

Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene.

Bhandari, Vinaya; Kim, Raymond; Faghfoury, Hanna; Silver, Josh; Chan, Raymond H; Ding, Qiliang; Schwartz, Marci L B; Bril, Vera.

Afiliación

Bhandari V; Ellen & Martin Prosserman Centre for Neuromuscular Diseases, Toronto General Hospital, University Health Network, University of Toronto, Toronto, ON, Canada.
Kim R; Division of Clinical and Metabolic Genetics, University Health Network, University of Toronto, Toronto, ON, Canada.
Faghfoury H; Division of Clinical and Metabolic Genetics, Mount Sinai Hospital and University Health Network, University of Toronto, Toronto, ON, Canada.
Silver J; Department of Molecular Genetics, University of Toronto & Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON, Canada.
Chan RH; University health Network, University of Toronto, Toronto, ON, Canada.
Ding Q; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, ON, Canada.
Schwartz MLB; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Bril V; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.

Can J Neurol Sci ; : 1-3, 2023 Aug 14.

Article en En | MEDLINE | ID: mdl-37577974

Palabras clave

MYBPC1 mutation; congenital myopathy

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Can J Neurol Sci Año: 2023 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Reino Unido

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