alexa A Mutation in Lamin A/C Gene Previously Known to Cause Emery- Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report

A Mutation in Lamin A/C Gene Previously Known to Cause Emery- Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B

Albi J Chalissery1*, Tudor Munteanu1, Yvonne Langan2, Francesca Brett2 and Janice Redmond1

1Department of Neurology, St James’s Hospital, Ireland

2Department of Neurophysiology, St James’s Hospital, Ireland

3Department of Neuropathology, Beaumont Hospital, Dublin, Ireland

Corresponding Author:
Albi J Chalissery
Department of Neurology, St James’s
Hospital, James’s Street, Dublin 8, Ireland
Tel: +353 1 410 3000
E-mail: [email protected]

Rec date: Feb 19, 2016; Acc date: Apr 13, 2016; Pub date: Apr 18, 2016

Citation: Chalissery AJ, Munteanu T, Langan Y, Brett F, Redmond J (2016) A Mutation in Lamin A/C Gene Previously Known to Cause Emery-Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B. J Clin Case Rep 6:770. doi:10.4172/2165-7920.1000770

Copyright: © 2016 Chalissery AJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Mutations in the lamin protein(found in the nuclear envelope) known to cause different allelic disorders including limb girdle muscular dystrophies (LGMD) and Emery-Dreifuss muscular dystrophy (EDMD). LGMDs are a heterogeneous group of disorders with progressive proximal muscle weakness in an autosomal inheritance pattern. LGMD type 1B is a disorder secondary to a mutation in the gene encoding Lamin A/C protein in the nuclear envelope. We report a heterozygous mutation (c.148C>T mutation) in the lamin A/C gene causing LGMD type 1B in a family. This mutation was previously reported to cause EDMD. Repeated muscle biopsies and using ever advancing molecular genetics assisted in establishing the diagnosis. Our case demonstrates the need for pursing investigations as cardiac involvement and sudden death is common in this group.

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