title: De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.
authors.affiliation: Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Ginevra
authors.initials: G
authors.lastname: Zanni
authors.affiliation: Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Nardella
authors.affiliation: Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Barresi
authors.affiliation: Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Bellacchio
authors.affiliation: Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Marcello
authors.initials: M
authors.lastname: Niceta
authors.affiliation: Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ciolfi
authors.affiliation: Department of Neurosciences, Unit of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Pro
authors.affiliation: Developmental Neurology Division, IRCCS Fondazione Istituto Neurologico C. Besta, Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: D'Arrigo
authors.affiliation: Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Tartaglia
authors.affiliation: Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D001284:Atrophy; D006801:Humans; D007040:Hypoventilation; D009134:Muscular Atrophy, Spinal; D009154:Mutation; D010641:Phenotype; D011115:Polyneuropathies; D012133:Respiratory Paralysis; D013132:Spinocerebellar Degenerations; D014157:Transcription Factors / Q000235:genetics
chemical_list: C549896:MORC2 protein, human; D014157:Transcription Factors