期刊
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
卷 80, 期 12, 页码 1304-1314出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jnnp.2008.158295
关键词
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资金
- Medical Research Council
- Muscular Dystrophy Campaign
- Department of Health's National Institute for Health Research Biomedical Research Centres
- NINDS
- Muscular Dystrophy Association
- Charcot-Marie-Tooth Association
- Medical Research Council [G0601943] Funding Source: researchfish
- MRC [G0601943] Funding Source: UKRI
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases of which the most common types are Charcot-Marie-Tooth disease (CMT), the hereditary sensory and autonomic neuropathies and the distal hereditary motor neuropathies. More than 30 causative genes have been described, making an accurate genetic diagnosis increasingly possible. Although no specific therapies are yet available, research into their pathogenesis has revolutionised our understanding of the peripheral nervous system and allowed the development of rational approaches to therapy. The first therapeutic trials in CMT are currently underway. This review will suggest an approach to the diagnosis of these disorders and provide an update on new therapies.
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