Publications:

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet Journal Of Rare Diseases

Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ

Publication Date: 2013-08-06

Variant appearance in text: RYR1: R2435K

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 1
• 1750-1172-8-117-S1.xlsx, sheet 2

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Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Neuromuscular Disorders : Nmd

Zhou, Haiyan H; Lillis, Suzanne S; Loy, Ryan E RE; Ghassemi, Farshid F; Rose, Michael R MR; Norwood, Fiona F; Mills, Kerry K; Al-Sarraj, Safa S; Lane, Russell J M RJ; Feng, Lucy L; Matthews, Emma E; Sewry, Caroline A CA; Abbs, Stephen S; Buk, Stefan S; Hanna, Michael M; Treves, Susan S; Dirksen, Robert T RT; Meissner, Gerhard G; Muntoni, Francesco F; Jungbluth, Heinz H

Publication Date: 2010-03

Variant appearance in text: RYR1: R2435K

PubMed Link: 20080402

Variant Present in the following documents:

• Main text

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