glycogen storage disease type-IIB (Danon disease, X-linked vacuolar cardiomyopathy & myopathy)

Introduction

associated with mutations in LAMP2 gene; no acid maltase deficiency.

More general terms

• glycogen storage disease (glycogenosis)

Additional terms

• lysosome-associated membrane glycoprotein 2; LAMP-2; CD107 antigen-like family member B; CD107b (LAMP2)

Database

• OMIM: https://mirror.omim.org/entry/300257
• OMIM: https://mirror.omim.org/entry/309060