Novel Mutations Involved in Charcot-Marie-Tooth 4C and Intrafamilial Variability: Let's Not Miss the Forest for the Trees

Charcot-Marie-Tooth 4C is characterized by early-onset, rapid progression, and mainly associated with SH3TC2 gene mutations. We reported a male patient carrying a novel heterozygous nonsense mutation in SH3TC2 gene along with a heterozygous known pathogenic mutation. Symptoms began at 15 months and...

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Vydáno v:J Pediatr Genet
Hlavní autoři: Gogou, Maria, Pavlou, Evangelos, Kimiskidis, Vasilios, Kouskouras, Konstantinos, Pavlidou, Efterpi, Papadopoulos, Theophanis, Haidopoulou, Katerina, Fidani, Liana
Médium: Artigo
Jazyk:Inglês
Vydáno: Georg Thieme Verlag KG 2021
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8110369/
https://ncbi.nlm.nih.gov/pubmed/33996186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1709695
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