Publications:

Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Journal Of Neurology

Todd, Joshua J JJ; Sagar, Vatsala V; Lawal, Tokunbor A TA; Allen, Carolyn C; Razaqyar, Muslima S MS; Shelton, Monique S MS; Chrismer, Irene C IC; Zhang, Xuemin X; Cosgrove, Mary M MM; Kuo, Anna A; Vasavada, Ruhi R; Jain, Minal S MS; Waite, Melissa M; Rajapakse, Dinusha D; Witherspoon, Jessica W JW; Wistow, Graeme G; Meilleur, Katherine G KG

Publication Date: 2018-11

Variant appearance in text: RYR1: Trp1495*

PubMed Link: 30155738

Variant Present in the following documents:

• 415_2018_9033_MOESM3_ESM.pdf

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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Molecular Genetics & Genomic Medicine

Publication Date: 2018-05

Variant appearance in text: RYR1: 4485G>A; Trp1495X

PubMed Link: 29932520

Variant Present in the following documents:

• MGG3-6-469.pdf

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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Molecular Genetics & Genomic Medicine

Blackburn, Patrick R PR; Selcen, Duygu D; Gass, Jennifer M JM; Jackson, Jessica L JL; Macklin, Sarah S; Cousin, Margot A MA; Boczek, Nicole J NJ; Klee, Eric W EW; Dimberg, Elliot L EL; Kennelly, Kathleen D KD; Atwal, Paldeep S PS

Publication Date: 2017-05

Variant appearance in text: RYR1: 4485G>A

PubMed Link: 28547000

Variant Present in the following documents:

• Main text
• MGG3-5-295.pdf

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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: 4485G>A

PubMed Link: 23919265

Variant Present in the following documents:

• 1750-1172-8-117-S1.xlsx, sheet 2

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