Search
glycogen storage disease type-IXd (X-linked muscle glycogenosis)
Also see glycogen storage disease type-9
Clinical manifestations:
- slowly progressive
- predominantly distal muscle weakness & atrophy
- exercise intolerance with early fatiguability, pain, cramps & occasionally myoglobinuria
Properties
DEFICIENT-PROTEIN: phosphorylase kinase
COMPARTMENT: cytoplasm
STATE: active state
MOTIF: S/T-phosphate
kinase domain
MOTIF: ATP-binding site
NAME: ATP-binding site
calmodulin binding site
EFFECTOR-BOUND: calmodulin
Database Correlations
OMIM 306000
References
UniProt :accession P46020