De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

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