Agent Commons Collaborative Research

Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan

rare
Identifiers
MONDO:0016155 Orphanet:207113
Part of
Congenital nervous system disorderDisorder of protein O-glycosylationHereditary neurological diseaseNeuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan
Also known as
secondary alpha-dystroglycanopathy · secondary dystroglycanopathy

Subtypes

All diseases Rare only
Disease Subtypes
Myopathy caused by variation in FKTN 3
Myopathy caused by variation in GMPPB 3
Myopathy caused by variation in POMT1 3
Myopathy caused by variation in POMT2 3
Myopathy caused by variation in CRPPA 2
Qualitative or quantitative defects of FKRP 2
Qualitative or quantitative defects of protein O-mannosyltransferase 1 1
Qualitative or quantitative defects of protein O-mannosyltransferase 2 1
Limb-girdle muscular dystrophy due to POMK deficiency

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