Title of article :
Report of a Patient with Limb-Girdle Muscular Dystrophy, Ptosis and Ophthalmoparesis Caused by Plectinopathy
Author/Authors :
Fattahi, Zohreh Genetics Research Centre - University of Social Welfare and Rehabilitation Sciences , Kahrizi, Kimia Genetics Research Centre - University of Social Welfare and Rehabilitation Sciences , Nafissi, Shahriar Department of Neurology - Tehran University of Medical Sciences , Fadaee, Mahsa Genetics Research Centre - University of Social Welfare and Rehabilitation Sciences , Abedini, Sedigheh Kariminejad-Najmabadi Pathology & Genetics Center , Kariminejad, Ariana Kariminejad-Najmabadi Pathology & Genetics Center , Akbari, Mohammad R. Women’s College Research Institute - Women’s College Hospital, University of Toronto - Canada , Najmabadi, Hossein Kariminejad-Najmabadi Pathology & Genetics Center
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. 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.
Keywords:
Keywords :
Iran , limb , girdle muscular dystrophy , myasthenic symptoms , plectinopathy
Journal title :
Archives of Iranian Medicine
