Condition: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
rs879253869 in
PMP2 gene and
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
PMID 30249361 2018 Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
PMID 27009151 2016 De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.
PMID 26828946 2016 A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.