King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene.

D'Arcy, C E; Bjorksten, A; Yiu, E M; Bankier, A; Gillies, R; McLean, C A; Shield, L K; Ryan, M M

D'Arcy, C E; Bjorksten, A; Yiu, E M; Bankier, A; Gillies, R; McLean, C A; Shield, L K; Ryan, M M.

Affiliation

D'Arcy CE; Children's Neurosciences Centre, Royal Children's Hospital, Flemington Road, Parkville, Victoria, Australia.

Neurology ; 71(10): 776-7, 2008 Sep 02.

Article in En | MEDLINE | ID: mdl-18765655

Subject(s)

Malignant Hyperthermia/genetics; Muscular Diseases/genetics; Mutation/genetics; Ryanodine Receptor Calcium Release Channel/genetics; Adult; Exons/genetics; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging/methods; Malignant Hyperthermia/complications; Malignant Hyperthermia/pathology; Muscular Diseases/complications; Muscular Diseases/pathology

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ryanodine Receptor Calcium Release Channel / Malignant Hyperthermia / Muscular Diseases / Mutation Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans Language: En Journal: Neurology Year: 2008 Document type: Article

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