Accept Cookies?
Provided by OpenGlobal E-commerce

Please wait while your page loads ...

FARAFARA Cure FA

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

BACKGROUND:

Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA).

METHODS:

We identified three Swedish FRDA patients with an FXN p.R165P missense mutation and compared their clinical features with six homozygote trinucleotide repeat expansion carriers. Patients were assessed clinically. Trinucleotide expansion length was determined and lymphocyte frataxin levels measured.

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis


About the Author

Jen Farmer

Jen Farmer

Executive Director

SHARE

FacebookTwitterLinkedinShare on Google+
Event F.jpg

 

Archived in
  Scientific News


 

 

Tagged in
FARA Scientific News