Muscular dystrophy-dystroglycanopathy type C

Definition:

Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. Muscular dystrophy-dystroglycanopathy type C (MDDGC) is the mildest clinical spectrum. It is late onset limb-girdle muscular dystrophy with no associated brain or eye involvement.

References:

[1]. Burcu Balci, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr;15(4):271-5. [Content Brief]

[2]. Caroline Godfrey, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. [Content Brief]

[3]. Pervin Dinçer, et al. A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan. Neuromuscul Disord. 2003 Dec;13(10):771-8. [Content Brief]

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