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Results 1 - 9 of 9 for Muscular "dystrophy-dystroglycanopathy"
  1. ... HARD syndrome Hydrocephalus, agyria, and retinal dysplasia MDDGA Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A ...
  2. ... Tests of FKRP PubMed FUKUTIN-RELATED PROTEIN; FKRP MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE ...
  3. ... type FCMD FKTN-related congenital muscular dystrophy MDDGA4 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Genetic Testing Registry: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, ...
  4. ... of POMT2 PubMed PROTEIN O-MANNOSYLTRANSFERASE 2; POMT2 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; ...
  5. ... of POMT1 PubMed PROTEIN O-MANNOSYLTRANSFERASE 1; POMT1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1; ...
  6. The CRPPA gene provides instructions for making a protein that is involved in a process called glycosylation. Through this chemical process, sugar molecules ...
  7. ... MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10; LGMDR10 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5; MDDGC5 MUSCULAR DYSTROPHY, ...
  8. ... been associated with another congenital muscular dystrophy called muscular dystrophy-dystroglycanopathy, type B4 (MDDGB4). People with MDDGB4 typically have ...
  9. ... Tests of LARGE1 PubMed ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN; LARGE1 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6; ...