| Entry |
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| Name |
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| Type |
Loss of function
|
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| Gene |
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06539 Cytoskeleton in muscle cells |
|---|
| Disease |
| H00593 | Limb-girdle muscular dystrophy |
|
|---|
| Reference |
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|---|
| Authors |
Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP |
|---|
| Title |
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). |
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| Journal |
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|---|
| Reference |
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|---|
| Authors |
Tsubata S, Bowles KR, Vatta M, Zintz C, Titus J, Muhonen L, Bowles NE, Towbin JA |
|---|
| Title |
Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. |
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| Journal |
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| LinkDB |
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