| 1 | CMT4K, SURF1 |
| Mitochondrial neuropathies": A survey from the large cohort of the Italian Network. | |
| Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G. | |
| Neuromuscul Disord 26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008. 2016 | |
| 2 | CMT4K, SURF1 |
| SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. | |
| Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. | |
| Neurology 81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. 2013 | |