Article
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.
Folia neuropathologica - 1 Jan 2015
Madej-Pilarczyk Agnieszka, Kotruchow Katarzyna, Kabzinska Dagmara, Cegielska Joanna, Kochanski Andrzej, Hausmanowa-Petrusewicz Irena
Abstract excerpt
In recent years numerous mutations in the LMNA gene encoding lamin A/C were shown to segregate with a wide spectrum of phenotypes. A recurrent p.R377H mutation in the LMNA gene was reported in patients with Emery-Dreifuss dystrophy (EDMD2) with various ethnic backgrounds. We present a patient with EDMD2 caused by a p.R377H mutation, associated with mild peripheral polyneuropathy. The analysis of peripheral myelin...
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