Sunday, February 4, 2018

Prevalence of hemochromatosis (HFE) gene mutations in Friedreich’s Ataxia patients and peripheral neuropathy

I. Singh, S. Shakya, R.K. Singh, V. Goyal, A.K. Srivastava, Parkinsonism & Related Disorders, Volume 46, Supplement 2, January 2018, Page e4, ISSN 1353-8020, doi:10.1016/j.parkreldis.2017.11.014.

Allele frequency of p.H63D mutation was statistically higher (p-value 0.04) in cases than controls. Peripheral neuropathy in our patients
correlated with p.H63D (p-value 0.038)

 Prevalence of hemochromatosis (HFE) gene mutations in Friedreich’s Ataxia patients and peripheral neuropathy