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
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