Associated Papers
De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.
Lee AJ et al.
Genes & Genomics, 2025
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Schon K et al.
Neurogenetics, 2017
Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
Borgulová I et al.
Neurogenetics, 2013
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
Taioli F et al.
Journal of the Peripheral Nervous System : Jpns, 2012
A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.
Chen SD et al.
Muscle & Nerve, 2011
Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
Baker SK et al.
Muscle & Nerve, 2008
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