Article
Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
Neuromuscular disorders : NMD - 1 Feb 2021
Reilich Peter, Schlotter Beate, Montagnese Federica, Jordan Berit, Stock Friedrich, Schäff-Vogelsang Mario, Hotter Benjamin, Eger Katherina, Diebold Isabel, Erdmann Hannes, Becker Kerstin, Schön Ulrike, Abicht Angela
Abstract excerpt
More than 80 genes are known to be associated with Charcot-Marie-Tooth disease (CMT). Mutations of LRSAM1 were identified as a rare cause and define the subgroup of axonal neuropathy CMT2P. We identified additional 14 patients out of 12 families. Clinical and electrophysiological data confirm a late-onset axonal neuropathy with a predominance of sensorimotor impairment. The patients harbored ten different...
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