Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder), C0410173
Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.830 | GeneticVariation | UNIPROT | Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. | 30345904 | 2018 |
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A | 0.830 | CausalMutation | CLINVAR | Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. | 22095924 | 2012 |
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A | 0.830 | CausalMutation | CLINVAR | C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. | 20345928 | 2010 |
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A | 0.830 | CausalMutation | CLINVAR | Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan. | 14981741 | 2004 |
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0.830 | GeneticVariation | BEFREE | Limb-girdle muscular dystrophy type 2C (LGMD2C) is caused by mutations in the gamma-sarcoglycan gene where a founder Gypsy mutation C283Y was detected. | 15479193 | 2004 |
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0.830 | GeneticVariation | BEFREE | Thorough non-invasive cardiovascular studies were conducted in a series of ten gamma-sarcoglycanopathy Gypsy patients with the founder C283Y mutation in 13q12. | 11053682 | 2000 |
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0.830 | GeneticVariation | UNIPROT | Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. | 10714584 | 2000 |
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A | 0.830 | CausalMutation | CLINVAR | To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. | 9658457 | 1998 |
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A | 0.830 | CausalMutation | CLINVAR | The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like). | 9781048 | 1998 |
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0.830 | GeneticVariation | BEFREE | The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like). | 9781048 | 1998 |
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0.830 | GeneticVariation | UNIPROT | A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. | 8968757 | 1996 |
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A | 0.830 | GeneticVariation | CLINVAR |