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J Peripher Nerv Syst. 2012 Jun;17(2):197-200. doi: 10.1111/j.1529-8027.2012.00398.x.

Phenotypic presentation of the Ser63Del MPZ mutation.

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1
Department of Neurology Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USA.

Abstract

Mutations in MPZ cause CMT1B, the second most frequent cause of CMT1. Elegant studies with Ser63del mice suggest that Ser63del MPZ is retained in the ER where it activates the unfolded protein response (UPR) that contributes to the neuropathy. Clinical information about patients with this mutation is limited. We present clinical and electrophysiological data on a large multigenerational family with CMT1B caused by Ser63del MPZ. The patients have a classical CMT1 phenotype that is much less severe than that of patients with Arg98Cys MPZ that also activates the UPR. These results suggest that clinical presentation along cannot predict which MPZ mutations will be retained in the ER and activate the UPR.

PMID:
22734905
PMCID:
PMC3731745
DOI:
10.1111/j.1529-8027.2012.00398.x
[Indexed for MEDLINE]
Free PMC Article
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