Exome analysis identifies B rody 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 , enco...

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Veröffentlicht in:	Molecular genetics & genomic medicine 2014-11, Vol.2 (6), p.472-483
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	Anesthesia Biopsy Ca2+-transporting ATPase Caffeine Calcium Calcium (intracellular) Calcium ions Calcium transport Diagnosis Genes Grants Hyperthermia Kinases Malignant hyperthermia Molecular modelling Muscle contraction Muscles Musculoskeletal system Mutation Myopathy Pain Patients Proteins Siblings Signs and symptoms Stiffness
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