Muscular dystrophy-dystroglycanopathy

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. The most severe clinical spectrum (type A) is characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, the mildest clinical spectrum (type C) is with limb-girdle muscular dystrophy. Type B is an intermediate phenotype between type A and C.

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]

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