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GLYCOGEN STORAGE DISEASE TYPE IXd (GSD9D)

GLYCOGEN STORAGE DISEASE TYPE IXd (GSD9D)
GSD9d; MUSCLE GLYCOGENOSIS, X-LINKED
300559
OMIM = Online Mendelian Inheritance of Men
715
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform
2.7.11.19
Xq13.1
E74.0
rare
X-likned rescessive
mutation in the PHKA1 gene
Laboratory findings    Creatine kinase inc (serum)
    Myoglobin inc (urine)
Symptoms    muscle atrophy
    muscle weakness
    onset, adolescent
    onset, childhood
    pain, muscle