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Peripheral myelin protein 2 – a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder characterized by wide clinical, genetic and pathomechanistic heterogeneity. Recently, the gene encoding peripheral myelin protein 2 (PMP2) was identified as a novel cause for CMT neuropathy with three m...
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| Pubblicato in: | Orphanet J Rare Dis |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6692960/ https://ncbi.nlm.nih.gov/pubmed/31412900 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1162-x |
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