Report of a Patient With Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy Pubmed



Fattahi Z^{1, 2} ; Kahrizi K¹ ; Nafissi S³ ; Fadaee M^{1, 2} ; Abedini SS¹ ; Kariminejad A² ; Akbari MR⁴ ; Najmabadi H^{1, 2} Show Affiliations
Source: Archives of Iranian Medicine Published:2015

Abstract

Mutations in plectin, a widely expressed giant cytolinker protein can lead to different diseases mostly with signs of muscular dystrophy (MD) and skin blistering. The only report of plectin-related disease without skin involvement is limb-girdle muscular dystrophy type 2Q (LGMD2Q) phenotype, showing early-onset limb-girdle muscular dystrophy symptoms with progressive manner and no cranial muscle involvement. aHere, we report a non-consanguineous Iranian family with two affected sisters showing progressive limb and ocular muscle weakness. Whole Exome Sequencing (WES) led to identification of compound heterozygous mutations, p.Gln1022Ter (c.3064C>T) and p.Gly3835Ser (c.11503G>A), in PLEC gene. To the best of our knowledge, this would be the first report of a patient with LGMD and myasthenic symptoms without any skin involvement, caused by plectinopathy. This observation extends the phenotypic spectrum of PLEC related diseases and suggests a variable expression of the PLEC- related symptoms. © 2015, Academy of Medical Sciences of I.R. Iran. All rights reserved.