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- Title
De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.
- Authors
Zanni, Ginevra; Nardella, Marta; Barresi, Sabina; Bellacchio, Emanuele; Niceta, Marcello; Ciolfi, Andrea; Pro, Stefano; D'Arrigo, Stefano; Tartaglia, Marco; Bertini, Enrico
- Subjects
ZINC-finger protein genetics; CEREBELLAR ataxia; HYPOVENTILATION; FRIEDREICH'S ataxia; GENETIC mutation; POLYNEUROPATHIES; RESPIRATORY insufficiency; SPINAL muscular atrophy; TRANSCRIPTION factors; PHENOTYPES; ATROPHY
- Publication
Brain: A Journal of Neurology, 2017, Vol 140, Issue 6, p1
- ISSN
0006-8950
- Publication type
letter
- DOI
10.1093/brain/awx083