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

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

• Qualitative or quantitative defects of FKRP 0 trials · 8 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2I 8 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 0 trials
• Myopathy caused by variation in FKTN 1 trial · 2 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2M 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 trials
• Myopathy caused by variation in CRPPA 0 trials · 1 incl. sub-types
  2 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2U 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 0 trials
• Myopathy caused by variation in GMPPB 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2T 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 0 trials
• Myopathy caused by variation in POMT1 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2K 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 0 trials
• Myopathy caused by variation in POMT2 0 trials · 1 incl. sub-types
  3 sub-types

  • Autosomal recessive limb-girdle muscular dystrophy type 2N 1 trial
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 0 trials
  • Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 0 trials
• Qualitative or quantitative defects of protein O-mannosyltransferase 1 0 trials · 1 incl. sub-types
  1 sub-type

  • Autosomal recessive limb-girdle muscular dystrophy type 2K 1 trial
• Qualitative or quantitative defects of protein O-mannosyltransferase 2 0 trials · 1 incl. sub-types
  1 sub-type

  • Autosomal recessive limb-girdle muscular dystrophy type 2N 1 trial
• Limb-girdle muscular dystrophy due to POMK deficiency 0 trials