eISSN: 1509-572x
ISSN: 1641-4640
Folia Neuropathologica
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3/2015
vol. 53
 
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abstract:
Case report

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy

Agnieszka Madej-Pilarczyk
,
Katarzyna Kotruchow
,
Dagmara Kabzinska
,
Joanna Cegielska
,
Andrzej Kochanski
,
Irena Hausmanowa-Petrusewicz

Folia Neuropathol 2015; 53 (3): 270-274
Online publish date: 2015/09/29
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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.
keywords:

Emery-Dreifuss muscular dystrophy, Charcot-Marie-Tooth neuropathy, LMNA, lamin A/C, mitofusin 2

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