Sign Up for a Free Account

This is an image preview.
Start a Free Account
to view the full image.

  • Nearly 3,000 illustrations, including video clips of neurologic disorders.

  • Every article is reviewed by our esteemed Editorial Board for accuracy and currency.

  • Full spectrum of neurology in 1,200 comprehensive articles.

  • Listen to MedLink on the go with Audio versions of each article.

FH gene variant type relative frequency

Small deletions include all except whole exon deletions. Large deletions include whole exon to whole gene deletions. (Source: Bayley JP, Launonen V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet 2008;9:20. Creative Commons Attribution License.)

Associated Disorders

  • Dystonia
  • Infantile spasms