Gene: [11q131/PYGM] phosphorylase; muscle (McArdle disease); McArdle disease (muscle glycogen phosphorylase deficiency); glycogen storage disease V (McArdle);
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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)." |
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HET |
Another glycogenosis (glycogen storage disease, type VI; Hers diseases) is caused by liver glycogen phosphorylase deficiency (GEM:14q21/PYGL)." |
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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 |
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KEY |
lys, mtbd, neu, myo, carb |
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CLA |
coding, basic |
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LOC |
11 q13.1 |
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MIM |
MIM: 232600 |
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EZN |
ENZYME: 2.4.1.1 |
