 | | VARIANT: 88v1 | |
| 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 |
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| Disease |
| H00292 | Hypertrophic cardiomyopathy |
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| Reference |
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| Authors |
Lindholm ME, Jimenez-Morales D, Zhu H, Seo K, Amar D, Zhao C, Raja A, Madhvani R, Abramowitz S, Espenel C, Sutton S, Caleshu C, Berry GJ, Motonaga KS, Dunn K, Platt J, Ashley EA, Wheeler MT |
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| Title |
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. |
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| Journal |
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| Reference |
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| Authors |
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bonnemann CG, Gupta VA, Fardeau M, Bohm J, Laporte J |
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| Title |
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). |
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| Journal |
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| LinkDB |
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