Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy

OBJECTIVE(S): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction o...

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Vydáno v:Iran J Basic Med Sci
Hlavní autoři: Tahmasebi-Birgani, Maryam, Hajjari, Mohammadreza, Golchin, Neda, Shalbafan, Bita, Mohammadi-Asl, Javad, Sadeghian, Forouzan
Médium: Artigo
Jazyk:Inglês
Vydáno: Mashhad University of Medical Sciences 2019
Témata:
Short Communication
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6556509/
https://ncbi.nlm.nih.gov/pubmed/31217940
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.22038/ijbms.2019.30754.7414
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