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.
authors.affiliation: Dr Agnieszka Madej-Pilarczyk, Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, 5 Pawińskiego St., 02-106 Warsaw, Poland, e-mail: agamadpil@gmail.com.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Madej-Pilarczyk
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kotruchow
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzinska
authors.forename: Joanna
authors.initials: J
authors.lastname: Cegielska
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochanski
authors.forename: Irena
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
mesh_terms: D000328:Adult; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000209:etiology*; D020641:Polymorphism, Single Nucleotide
chemical_list: D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human