glycogen storage disease type-XIII (muscle-specific enolase-beta deficiency)

Pathology

• glycogen storage myopathy
• diminished protein levels
• focal sarcoplasmic accumulation of glycogen-beta particles

Genetics

• associated with defects in ENO3

Clinical manifestations

• exercise-induced myalgias
• generalized muscle weakness & fatigability

More general terms

• glycogen storage disease (glycogenosis)

Additional terms

• enolase-3 (ENO3, beta-enolase)

Database

• OMIM: https://mirror.omim.org/entry/131370