De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy.

Mademan, Inès

De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. [electronic resource] - Neurology Nov 2013 - 1953-8 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000436615.58705.c9 doi


Adolescent
Adult
Charcot-Marie-Tooth Disease--complications
DNA Mutational Analysis
Family Health
Female
Formins
Glomerulosclerosis, Focal Segmental--complications
Humans
Male
Microfilament Proteins--genetics
Models, Molecular
Mutation--genetics
Young Adult