An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor

Human Molecular Genetics

Volumn 9, Issue 18, 2000, Pages 2599-2608

  Monnier, Nicole ^a   Romero, Norma Beatriz ^b   Lerale, Joëlle ^a   Nivoche, Yves ^c   Qi, Dong ^d   MacLennan, David H ^d   Fardeau, Michel ^b   Lunardi, Joël ^a,e  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIV GRENOBLE ALPES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CAFFEINE; CALCIUM CHANNEL; COMPLEMENTARY DNA; MUSCLE PROTEIN; RYANODINE RECEPTOR;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALCIUM CELL LEVEL; CALCIUM TRANSPORT; CARBOXY TERMINAL SEQUENCE; CHANNEL GATING; CONTROLLED STUDY; CYTOPLASM; DISEASE PREDISPOSITION; FAMILY; FEMALE; FRANCE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; MALE; MALIGNANT HYPERTHERMIA; MUSCLE CELL; MUTANT; MYOPATHY; NEMALINE MYOPATHY; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; SKELETAL MUSCLE;

EID: 0034326318     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.18.2599     Document Type: Article

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