Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility

Whole exome sequencing (WES) was used to determine the primary cause of muscle disorder in a family diagnosed with a mild, undetermined myopathy and malignant hyperthermia (MH) susceptibility (MHS). WES revealed the compound heterozygous mutations, p.Ile235Asn and p.Glu982Lys, in ATP2A1, encoding th...

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Detalles Bibliográficos
Autores principales: Sambuughin, Nyamkhishig, Zvaritch, Elena, Kraeva, Natasha, Sizova, Olga, Sivak, Erica, Dickson, Kelley, Weglinski, Margaret, Capacchione, John, Muldoon, Sheila, Riazi, Sheila, Hamilton, Susan, Brandom, Barbara, MacLennan, David H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2014
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4303217/
https://www.ncbi.nlm.nih.gov/pubmed/25614869
http://dx.doi.org/10.1002/mgg3.91

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