Article
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.
Clinical genetics - 1 Nov 2018
Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder J M, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J
Abstract excerpt
Biallelic SBF2 mutations cause Charcot-Marie-Tooth disease type 4B2 (CMT4B2), a sensorimotor neuropathy with autosomal recessive inheritance and association with glaucoma. Since the discovery of the gene mutation, only few additional patients have been reported. We identified seven CMT4B2 families with nine different SBF2 mutations. Revisiting genetic and clinical data from our cohort and the literature, SBF2...
Topics
- Adolescent
- Adult
- Biopsy
- Charcot-Marie-Tooth Disease
- Child
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Humans
- Male