Zanni, Ginevra

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation. [electronic resource] - Brain : a journal of neurology 06 2017 - e34 p. digital

Publication Type: Letter; Comment

1460-2156

10.1093/brain/awx083 doi


Atrophy
Humans
Hypoventilation
Muscular Atrophy, Spinal
Mutation
Phenotype
Polyneuropathies
Respiratory Paralysis
Spinocerebellar Degenerations
Transcription Factors--genetics