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Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.

Neuromuscular disorders : NMD - 1 Aug 2023

Cook Shawna, Hooser Blair N, Williams D Colette, Kortz Gregg, Aleman Monica, Minor Katie, Koziol Jennifer, Friedenberg Steven G, Cullen Jonah N, Shelton G Diane, Ekenstedt Kari J

Abstract excerpt

Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology. Whole-genome sequencing was performed on all four GRs, and variants from each...

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PMID: 37400349
DOI: 10.1016/j.nmd.2023.06.007
PMCID: PMC10530471

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