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

Neuromuscul Disord. 2015 Apr;25(4):359-60. doi: 10.1016/j.nmd.2014.12.007. Epub 2014 Dec 24.

Authors

Wladimir Bocca Vieira de Rezende Pinto¹, Acary Souza Bulle Oliveira², Paulo Victor Sgobbi de Souza²

Affiliations

¹ Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil. Electronic address: [email protected].
² Neurology Residency Program, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo, SP, Brazil.

PMID: 25617005
DOI: 10.1016/j.nmd.2014.12.007

No abstract available

Publication types

Letter
Comment

MeSH terms

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

Substances

Flavoproteins
Phosphoric Monoester Hydrolases