Gene: [11q131/PYGM] phosphorylase; muscle (McArdle disease); McArdle disease (muscle glycogen phosphorylase deficiency); glycogen storage disease V (McArdle);

FAG	Three isoforms of glycogen phosphorylase are currently known: B (cerebral; GEM:20p112/PYGB), L (hepatic; GEM:14q21/PYGL) and muscular ones. In addition, a glycogen phoshorylase B-like gene is mapped in chr 10 (GEM:10^/PYGBL)."
HET	Another glycogenosis (glycogen storage disease, type VI; Hers diseases) is caused by liver glycogen phosphorylase deficiency (GEM:14q21/PYGL)."
REF	PHE,FOG,PAT "Abarbanel &: Neurology, 37, 316-318, 1987 PHE,FOG,PAT "Braakhekke &: Brain, 109, 1087-1101, 1986 GEN,SEQ "Burke J &: Proteins, 2, 177-187, 1987 PHE,FOG,PAT "Daegelen &: J Inherit Metab Dis, 9, 287-290, 1986 PAT,MOL "Daegelen &: Ann Hum Genet, 47, 107-115, 1983 PHE,FOG,PAT "DiMauro, Hartlage: Neurology, 28, 1124-1129, 1978 PHE,FOG,PAT "Engel &: New Engl J Med, 268, 135-137, 1963 CLO,SEQ,EXP "Gautron S &: J Clin Invest, 79, (Jan), 275-281, 1987 LOC,MOL "Lebo RV &: Science, 225, 57-59, 1984 CLO,SEQ,MAP "Lemmens I &: Genomics, 44, N1, 94-100, 1997 PHE,FOG,PAT "Mantle &: J Neurol Sci, 78, 63-70, 1987 HIS,PAT,PHE "McArdle B: Clin Sci, 10, 13-33, 1951 PHE,FOG,PAT "Pearson &: Am J Med, 30, 502-517, 1961
KEY	lys, mtbd, neu, myo, carb
CLA	coding, basic
LOC	11 q13.1
MIM	MIM: 232600
EZN	ENZYME: 2.4.1.1