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 | CausalMutation | CLINVAR | Novel γ-sarcoglycan-mutation affects cardiac function and N-terminal dystrophin expression. | 23929688 | 2014 |
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C | 0.700 | CausalMutation | CLINVAR | Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population. | 24552312 | 2014 |
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|
C | 0.700 | CausalMutation | CLINVAR | A phase I trial of adeno-associated virus serotype 1-γ-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. | 22240777 | 2012 |
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C | 0.700 | CausalMutation | CLINVAR | Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. | 20623375 | 2010 |
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C | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. | 12566530 | 2003 |
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C | 0.700 | CausalMutation | CLINVAR | [Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation]. | 12040521 | 2002 |
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C | 0.700 | CausalMutation | CLINVAR | Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. | 10942431 | 2000 |
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C | 0.700 | CausalMutation | CLINVAR | Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. | 7481775 | 1995 |