Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: Association with central core disease and alteration of calcium homeostasis

Human Molecular Genetics

Volumn 10, Issue 25, 2001, Pages 2879-2887

  Tilgen, Nikola ^a   Zorzato, Francesco ^b,c   Halliger Keller, Birgit ^a   Muntoni, Francesco ^d   Sewry, Caroline ^d   Palmucci, Laura M ^e   Schneider, Christiane ^a   Hauser, Erwin ^f   Lehmann Horn, Frank ^g   Müller, Clemens R ^a   Treves, Susan ^b  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY OF FERRARA   (Italy)

^d IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^e UNIVERSITY OF TURIN   (Italy)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

^g UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CALCIUM; DANTROLENE; RYANODINE RECEPTOR; THAPSIGARGIN;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; B LYMPHOCYTE; CALCIUM HOMEOSTASIS; CALCIUM TRANSPORT; CARBOXY TERMINAL SEQUENCE; CENTRONUCLEAR MYOPATHY; CHROMOSOME 19Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE CLUSTER; GENE EXPRESSION; GENETIC CONSERVATION; HUMAN; HYDROPHILICITY; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MUSCLE WEAKNESS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SKELETAL MUSCLE;

VERTEBRATA;

EID: 0035660572     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.25.2879     Document Type: Article

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