A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. [electronic resource]
Producer: 20151026Description: 290-2 p. digitalISSN:- 1399-0004
- 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
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Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
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