Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy. (Q38309247)

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7 March 2020

title

Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy (English)

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7 March 2020

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6

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Benoit Funalot

2

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Olivia Boyer

3

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Corinne Antignac

8

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author name string

Stéphane Mathis

1

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7 March 2020

Catherine Lacroix

4

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Pascale Marcorelles

5

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Laurence Richard

7

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Jean-Michel Vallat

9

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publication date

1 March 2014

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Journal of Neuropathology & Experimental Neurology

7 March 2020

published in

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volume

73

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issue

3

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page(s)

223-233

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Epidemiology of peripheral neuropathy

7 March 2020

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Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

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A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

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The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

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Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

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21 January 2018

Identifiers

DOI

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7 March 2020

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