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