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 | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | GeneticVariation | CLINVAR | Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C. | 24638197 | 2014 |
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|
C | 0.700 | GeneticVariation | CLINVAR | A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. | 9266733 | 1997 |
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C | 0.700 | GeneticVariation | CLINVAR | Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. | 8923014 | 1996 |