GBE1
1,4-alpha-glucan branching enzyme 1
Ассоциированные заболевания
Герминативная мутация (причина)8
Adult polyglucosan body diseaseORPHA:206583
→Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular formORPHA:308698
→Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular formORPHA:308712
→Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular formORPHA:308670
→Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic formORPHA:308684
→Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular formORPHA:308655
→Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic formORPHA:308638
→Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic formORPHA:308621
→