Entry |
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Name |
Muscular dystrophy-dystroglycanopathy |
Subgroup |
Muscular dystrophy-dystroglycanopathy type A [DS: H00120] Muscular dystrophy-dystroglycanopathy type B [DS: H01960] Muscular dystrophy-dystroglycanopathy type C [DS: H01959] |
Description |
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) are characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, mildest clinical spectrum (type C) are with limb-girdle muscular dystrophy. Type B is intermediate phenotypes between type A and C.
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Category |
Congenital disorder of metabolism
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Brite |
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C70 Muscular dystrophy
H02307 Muscular dystrophy-dystroglycanopathy
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Pathway |
hsa00515 | Mannose type O-glycan biosynthesis |
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Network |
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Element |
N00631 | FKRP deficiency in mannose type O-glycan biosynthesis |
N00632 | FKTN deficiency in mannose type O-glycan biosynthesis |
N00637 | POMT1 deficiency in mannose type O-glycan biosynthesis |
N00638 | POMT2 deficiency in mannose type O-glycan biosynthesis |
N00639 | POMGNT1 deficiency in mannose type O-glycan biosynthesis |
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Gene |
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Other DBs |
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Reference |
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Authors |
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F |
Title |
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. |
Journal |
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Reference |
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Authors |
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H |
Title |
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. |
Journal |
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LinkDB |
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