| 1 | ACTN2, MPD6
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| Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
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| Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B.
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| Ann Neurol. Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3. 2019
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| 2 | ACTN2, MPD6
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| Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
|
| Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B.
|
| Ann Neurol. Jun;85(6):899-906. doi: 10.1002/ana.25470. Epub 2019 Apr 3. 2019
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| 3 | ACTN2, MPD6
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| Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation
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| Haywood NJ, Wolny M, Rogers B, Trinh CH, Shuping Y, Edwards TA, Peckham M.
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| Biochem J. Aug 15;473(16):2485-93. doi: 10.1042/BCJ20160421. Epub 2016 Jun 10. 2016
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| 4 | ACTN2, MPD6
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| Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
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| Bagnall RD, Molloy LK, Kalman JM, Semsarian C
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| BMC Med Genet. Sep 16;15:99. doi: 10.1186/s12881-014-0099-0. 2014
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