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Article

A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family.

Neuroscience letters - 15 Jun 2015

Gupta Shashank, Pathak Ekta, Chaudhry Vidya Nair, Chaudhry Prashaant, Mishra Rajeev, Chandra Abhishek, Mukherjee Ashim, Mutsuddi Mousumi

Abstract excerpt

Idiopathic congenital nystagmus (ICN) is the most common form of oculomotor disorder characterized by involuntary bilateral ocular oscillations. Primarily the disease is an ocular anomaly but the pathophysiology is associated with neuronal cytoskeletal dynamics in the brain. In the current study, a three generation North Indian family affected with X-linked idiopathic congenital nystagmus (XLICN) was recruited....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Nystagmus, Congenital

Source

Identifiers

PMID: 25916882
DOI: 10.1016/j.neulet.2015.04.037

Genes

FRMD7

Variants

Provenance

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