Article
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
Neuromuscular disorders : NMD - 1 Aug 2011
Nouioua Sonia, Hamadouche Tarik, Funalot Benoit, Bernard Rafaëlle, Bellatache Nora, Bouderba Radia, Grid Djamel, Assami Salima, Benhassine Traki, Levy Nicolas, Vallat Jean-Michel, Tazir Meriem
Abstract excerpt
Autosomal recessive Charcot-Marie-Tooth diseases, relatively common in Algeria due to high prevalence of consanguineous marriages, are clinically and genetically heterogeneous. We report on two consanguineous families with demyelinating autosomal recessive Charcot-Marie-Tooth disease (CMT4) associated with novel homozygous mutations in the MTMR2 gene, c.331dupA (p.Arg111LysfsX24) and PRX gene, c.1090C>T...
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