Arch Iran Med. 2015;18(1): 0-0.
PMID: 25556389
Scopus ID: 84920964563
  Abstract View: 523
  PDF Download: 358

Case Report

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

Zohreh Fattahi, Kimia Kahrizi, Shahriar Nafissi, Mahsa Fadaee, Seyedeh Sedigheh Abedini, Ariana Kariminejad, Mohammad R Akbari, Hossein Najmabadi *


 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. Here, 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 a 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.

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ePublished: 01 Jan 2015
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