@Article{Madej-Pilarczyk2015,
journal="Folia Neuropathologica",
issn="1641-4640",
volume="53",
number="3",
year="2015",
title="Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy",
abstract=" 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 protein 22 (PMP22), ganglioside induced differentiation-associated protein 1 (GDAP1), gap junction β-1 protein (GJB1), and myelin protein zero (MPZ) genes did not reveal mutations; however, we identified a new sequence intronic variant in the mitofusin 2 (MFN2)  gene of unknown pathogenic significance. A complex phenotype in the presented patient might depend either on single mutation in the LMNA gene or on bigenic defect; therefore, a wide genetic investigation is needed to elucidate the molecular background of EDMD2/polyneuropathy in this case. ",
author="Madej-Pilarczyk, Agnieszka
and Kotruchow, Katarzyna
and Kabzinska, Dagmara
and Cegielska, Joanna
and Kochanski, Andrzej
and Hausmanowa-Petrusewicz, Irena",
pages="270--274",
doi="10.5114/fn.2015.54428",
url="http://dx.doi.org/10.5114/fn.2015.54428"
}