| Entry |
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| Name |
Sarcoglycanopathies |
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| Subgroup |
Limb-girdle muscular dystrophy (LGMD) 2C
Limb-girdle muscular dystrophy (LGMD) 2D
Limb-girdle muscular dystrophy (LGMD) 2E
Limb-girdle muscular dystrophy (LGMD) 2F |
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| Supergrp |
Limb-girdle muscular dystrophy [DS: H00593] |
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| Description |
Sarcoglycanopathies are a group of a four genetically closely related muscular dystrophies with a phenotype often similar to the X-linked Duchenne muscular dystrophy [DS: H00562]. It has been demonstrated that pathological mutations of the alpha-sarcoglycan (SG), beta-SG, gamma-SG, and delta-SG genes cause autosomal recessive muscular dystrophies. Clinical presentation of sarcoglycanopathies is characterized by a slowly progressive proximal muscle weakness, leading to loss of ambulation during adolescence in most patients.
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| Category |
Nervous system disease; Musculoskeletal disease
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| Brite |
Human diseases [BR:br08402]
Musculoskeletal diseases
Muscular diseases
H00565 Sarcoglycanopathies
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
H00565 Sarcoglycanopathies
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Kirschner J, Lochmuller H |
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| Title |
Sarcoglycanopathies. |
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| Journal |
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| Reference |
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| Authors |
Sandona D, Betto R |
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| Title |
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. |
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| Journal |
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| LinkDB |
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