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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BlackWell Publishing Ltd 2014
Matèries:
Original Articles
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars