Charcot-Marie-Tooth type 4B2 demyelinating neuropathy in miniature Schnauzer dogs caused by a novel splicing SBF2 (MTMR13) genetic variant: a new spontaneous clinical model

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder in humans affecting 40 out of 100,000 individuals. In 2008, we described the clinical, electrophysiological and pathological findings of a demyelinating motor and sensory neuropathy in Miniature Schnauzer dogs, w...

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Bibliographic Details
Published in:PeerJ
Main Authors: Granger, Nicolas, Luján Feliu-Pascual, Alejandro, Spicer, Charlotte, Ricketts, Sally, Hitti, Rebekkah, Forman, Oliver, Hersheson, Joshua, Houlden, Henry
Format: Artigo
Language:Inglês
Published: PeerJ Inc. 2019
Subjects:
Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6875392/
https://ncbi.nlm.nih.gov/pubmed/31772832
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7717/peerj.7983
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