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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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: BlackWell Publishing Ltd 2014
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4303217/
https://ncbi.nlm.nih.gov/pubmed/25614869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.91
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