PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Jobling, Rebekah K

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. [electronic resource] - Brain : a journal of neurology Jun 2015 - 1505-17 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1460-2156

10.1093/brain/awv057 doi


Adult
Child
Humans
Lebanon
Lymphocytes--metabolism
Male
Metalloendopeptidases--genetics
Mitochondrial Proteins--metabolism
Mutation--genetics
Pedigree
Protein Subunits--genetics
Spinocerebellar Degenerations--genetics
Young Adult
Mitochondrial Processing Peptidase