Article
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
Neuromuscular disorders : NMD - 1 Apr 2008
Bitoun Marc, Stojkovic Tanya, Prudhon Bernard, Maurage Claude-Alain, Latour Philippe, Vermersch Patrick, Guicheney Pascale
Abstract excerpt
Mutations in dynamin 2 (DNM2) have been associated with autosomal dominant centronuclear myopathy, dominant intermediate Charcot-Marie-Tooth (CMT) type B and CMT2. Here, we report a novel DNM2 mutation in the Pleckstrin homology domain of DNM2 (p.K559del) in a patient with an axonal length-dependent sensorimotor polyneuropathy predominantly affecting the lower limbs. Neuropathy is associated with congenital...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.