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: MHS: 11778G>A; Gln3926Gln

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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Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.

Human Gene Therapy

Rendu, John J; Brocard, Julie J; Denarier, Eric E; Monnier, Nicole N; Piétri-Rouxel, France F; Beley, Cyriaque C; Roux-Buisson, Nathalie N; Gilbert-Dussardier, Brigitte B; Perez, Marie José MJ; Romero, Norma N; Garcia, Luis L; Lunardi, Joël J; Fauré, Julien J; Fourest-Lieuvin, Anne A; Marty, Isabelle I

Publication Date: 2013-07

Variant appearance in text: RYR1: 11778G>A; Gln3926Gln

PubMed Link: 23805838

Variant Present in the following documents:

• Main text

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