A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
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DOI: 10.1136/jmedgenet-2021-108281
Abstract: Pathogenic variants in the MME gene cause dominant and recessive lateonset axonal hereditary neuropathy, that is, axonal CharcotMarieTooth syndrome (LOCMT2). Here, we report nextgeneration sequencing (NGS) and Sanger sequencing (SS) results of 28 LOCMT2 patients… read more here.
Keywords: online supplemental; mme variants; allele dropout; 467del pro156leufs ... See more keywords