Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder), C0410173
Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.070 | Biomarker | disease | BEFREE | Immunocytochemistry demonstrated normal spectrin and dystrophin, reduced alpha-sarcoglycan and absent gamma-sarcoglycan--indicating a gamma-sarcoglycanopathy. | 10714584 | 2000 | ||||
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0.070 | GeneticVariation | disease | BEFREE | Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscular dystrophy with primary gamma-sarcoglycan deficiency, generally associated with a severe clinical course. gamma-sarcoglycan, a 35kDa dystrophin-associated protein, is encoded by a single gene on chromosome 13q12. | 9781048 | 1998 | ||||
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0.070 | GeneticVariation | disease | BEFREE | One form of this disorder, limb-girdle muscular dystrophy type 2C (LGMD 2C), is prevalent in northern Africa and has been shown to be associated with a single mutation in the gene encoding the dystrophin-associated protein gamma-sarcoglycan. | 8900232 | 1996 | ||||
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0.070 | Biomarker | disease | BEFREE | Marked deficiency of muscle adhalin, a 50 kDa sarcolemmal dystrophin-associated glycoprotein, has been reported in severe childhood autosomal recessive muscular dystrophy (SCARMD). | 7663524 | 1995 | ||||
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0.070 | Biomarker | disease | BEFREE | At present, the status of the link between the dystrophin-glycoprotein complex and laminin is unclear in SCARMD. | 7783429 | 1995 | ||||
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0.070 | AlteredExpression | disease | BEFREE | Two male cousins with severe childhood, autosomal recessive, Duchenne-like, muscular dystrophy (SCARMD) have been identified with a deficiency of the 50 kDa dystrophin-associated glycoprotein but normal expression of dystrophin. | 8012192 | 1994 | ||||
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0.070 | GeneticVariation | disease | BEFREE | Here we report the specific deficiency of the 50K dystrophin-associated glycoprotein (M(r) 50,000) in sarcolemma of SCARMD patients. | 1406935 | 1992 |