PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability
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DOI: 10.1016/j.nmd.2019.03.010
Abstract: PMP22 is the most frequent mutated gene in Charcot-Marie-Tooth disease (CMT) type 1A. Another phenotype, hereditary neuropathy with pressure palsies (HNPP), could be caused by PMP22 mutations. PMP22 encodes a peripheral myelin protein with molecular… read more here.
Keywords: related disease; site acceptor; acceptor variant; disease ... See more keywords