Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Neuromuscular disorders : NMD ·Vol. 25 ·No. 4 ·2015-04-00 ·Pages 359-60

Pinto WB, Oliveira AS, Souza PV

Abstract

暂无摘要

MeSH Terms

Charcot-Marie-Tooth Disease/genetics Female Flavoproteins/genetics Humans Phosphoric Monoester Hydrolases/genetics

Chemicals

Flavoproteins Phosphoric Monoester Hydrolases

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Pinto Wladimir Bocca Vieira de Rezende

Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: wladimirbvrpinto@gmail.com.

Oliveira Acary Souza Bulle

Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

Souza Paulo Victor Sgobbi de

Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

Article Info

Journal

Neuromuscular disorders : NMD

Abbr.

Neuromuscul Disord

ISSN

1873-2364

DOI

10.1016/j.nmd.2014.12.007

wladimirbvrpinto@gmail.com

Published

2015-04-00

Epub

2014-00-24

Pages

359-60

Language

English

Region

England

NLM ID

9111470

Subset

Corrections

CommentOn

PMID: 24878229

CommentIn

PMID: 25617004

External Links

PubMed source DOI: 10.1016/j.nmd.2014.12.007 View journal details

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Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

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