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: His581GlnfsX29

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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Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction.

Journal Of Inherited Metabolic Disease

Schreuder, L T W LT; Nijhuis-van der Sanden, M W G MW; de Hair, A A; Peters, G G; Wortmann, S S; Bok, L A LA; Morava, E E

Publication Date: 2010-12

Variant appearance in text: RYR1: His581GlnfsX29

PubMed Link: 20443062

Variant Present in the following documents:

• Main text
• 10545_2010_Article_9085.pdf

View BVdb publication page