Genotype-phenotype correlations in recessive RYR1-related myopathies

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Amburgey, Kimberly ^a   Bailey, Angela ^a   Hwang, Jean H ^b   Tarnopolsky, Mark A ^c   Bonnemann, Carsten G ^d   Medne, Livija ^e   Mathews, Katherine D ^f   Collins, James ^g   Daube, Jasper R ^h   Wellman, Gregory P ⁱ   Callaghan, Brian ^a   Clarke, Nigel F ^b   Dowling, James J ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f UNIVERSITY OF IOWA   (United States)

^g CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^h MAYO CLINIC   (United States)

ⁱ Delta Pathology Group   (United States)

Author keywords

Congenital myopathies; Genotype phenotype relationships; RYR1

Indexed keywords

RYANODINE RECEPTOR 1;

ARTICLE; CHANNEL GATING; COHORT ANALYSIS; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOMORPHIC MUTATION; MISSENSE MUTATION; MYOPATHY; PHENOTYPE;

COHORT STUDIES; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUSCULAR DISEASES; MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEVERITY OF ILLNESS INDEX;

EID: 84880966927     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-117     Document Type: Article

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