Schottmann, G <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12137  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Atrophy<br/>Axons<br/>Biopsy<br/>Cerebellar Diseases--diagnosis<br/>Child<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Frameshift Mutation<br/>Humans<br/>Magnetic Resonance Imaging<br/>Male<br/>Mitochondrial Proteins--genetics<br/>Motor Neurons<br/>Muscles--pathology<br/>Neural Conduction<br/>Pedigree<br/>Peripheral Nervous System Diseases--diagnosis