Journal
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Volume 84, Issue 11, Pages 1247-1249Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/jnnp-2013-305049
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Funding
- National Institutes of Neurological Diseases and Stroke [5R01NS054132, 5R01NS052767, U54NS065712, NS060983]
- National Institute of General Medical Science [1R01GM088278]
- Rackham Merit Fellowship
- National Institutes of Health Genetics Training Grant [T32 GM007544-32]
- Medical Research Council (MRC)
- Wellcome Trust
- Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme
- Medical Research Council [MR/K000608/1, G108/638, MR/J004758/1, G1001253, G0802760] Funding Source: researchfish
- MRC [MR/J004758/1, G0802760, MR/K000608/1, G1001253, G108/638] Funding Source: UKRI
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Charcot-Marie-Tooth (CMT) disease is a genetically heterogeneous condition with >50 genes now being identified. Thanks to new technological developments, namely, exome sequencing, the ability to identify additional rare genes in CMT has been drastically improved. Here we present data suggesting that MARS is a very rare novel cause of late-onset CMT2. This is supported by strong functional and evolutionary evidence, yet the absence of additional unrelated cases warrant future studies to substantiate this conclusion.
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