Limb-girdle muscular dystrophy-dystroglycanopathy, type C1

Common Name(s)

Limb-girdle muscular dystrophy-dystroglycanopathy, type C1

Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; {128239}) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable ({1:Balci et al., 2005}; review by {4:Godfrey et al., 2007}). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C) Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 ({613158}), caused by mutation in the POMT2 gene ({607439}); MDDGC3 ({613157}), caused by mutation in the POMGNT1 gene ({606822}); MDDGC4 ({611588}), caused by mutation in the FKTN gene ({607440}); MDDGC5 ({607155}), caused by mutation in the FKRP gene ({606596}); MDDGC7 ({616052}), caused by mutation in the ISPD gene ({614631}); MDDGC9 ({613818}) caused by mutation in the DAG1 gene ({128239}); MDDGC12 ({616094}), caused by mutation in the POMK gene ({615247}); and MDDGC14 ({615362}) caused by mutation in the GMPPB gene ({615320}).
 

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Condition Specific Organizations

Following organizations serve the condition "Limb-girdle muscular dystrophy-dystroglycanopathy, type C1" for support, advocacy or research.

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Scientific Literature

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