A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy.

Schottmann, G

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. [electronic resource] - Clinical genetics Mar 2014 - 290-2 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1399-0004

10.1111/cge.12137 doi


Atrophy
Axons
Biopsy
Cerebellar Diseases--diagnosis
Child
Consanguinity
DNA Mutational Analysis
Frameshift Mutation
Humans
Magnetic Resonance Imaging
Male
Mitochondrial Proteins--genetics
Motor Neurons
Muscles--pathology
Neural Conduction
Pedigree
Peripheral Nervous System Diseases--diagnosis