TY  - GEN
AU  - Deschauer,M
AU  - Opalka,J R
AU  - Lindner,A
AU  - Zierz,S
TI  - A novel nonsense mutation (R269X) in the myophosphorylase gene in a patient with McArdle disease
SN  - 1096-7192
PY  - 2002///0313
KW  - Adult
KW  - Codon, Nonsense
KW  - Female
KW  - Genetic Heterogeneity
KW  - Glycogen Phosphorylase, Muscle Form
KW  - genetics
KW  - Glycogen Storage Disease Type V
KW  - enzymology
KW  - Humans
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1006/mgme.2001.3252
ER  -