| 1 | ADSS1, MPD5 |
| Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. 2020 : | |
| Mroczek M, Durmus H, Bijarnia-Mahay S, Töpf A, Ghaoui R, Bryen S, Duff J, England E, Cooper ST, MacArthur DG, Straub V. | |
| Neuromuscul Disord. Apr;30(4):310-314. doi: 10.1016/j.nmd.2020.02.006. Epub 2020 Feb 14. 2020 | |
| 2 | ADSS1, MPD5 |
| Distal myopathy with ADSSL1 mutations in Korean patients.2017 May;27(5):465-472. doi: 10.1016/j.nmd.2017.02.004. Epub 2017 Feb 14. PMID: | |
| Park HJ, Shin HY, Kim S, Kim SH, Lee Y, Lee JH, Hong JM, Kim SM, Park KD, Choi BO, Lee JH, Choi YC. | |
| Neuromuscul Disord. May;27(5):465-472. doi: 10.1016/j.nmd.2017.02.004. Epub 2017 Feb 14 2017 | |
| 3 | ADSS1, MPD5 |
| ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. | |
| Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO | |
| Ann Neurol. Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15 2016 | |