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Open AccessArticle

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey
Author to whom correspondence should be addressed.
These authors contributed equally.
Genes 2020, 11(7), 716;
Received: 30 May 2020 / Revised: 23 June 2020 / Accepted: 24 June 2020 / Published: 27 June 2020
We identified the known c.1_9del mutation in the PLEC gene in four unrelated females from consanguineous families of Turkish origin. All individuals presented with slowly progressive limb-girdle weakness without any dermatological findings, and dystrophic changes observed in their muscle biopsies. Additionally, the neurological examination revealed ptosis, facial weakness, fatigability, and muscle cramps in all four cases. In two patients, repetitive nerve stimulation showed a borderline decrement and a high jitter was detected in all patients by single-fiber electromyography. Clinical improvement was observed after treatment with pyridostigmine and salbutamol was started. We further characterize the phenotype of patients with limb-girdle muscular dystrophy R17 clinically, by muscle magnetic resonance imaging (MRI) features and by describing a common 3.8 Mb haplotype in three individuals from the same geographical region. In addition, we review the neuromuscular symptoms associated with PLEC mutations and the role of plectin in the neuromuscular junction. View Full-Text
Keywords: plectin; PLEC; myasthenia; limb-girdle muscular dystrophy plectin; PLEC; myasthenia; limb-girdle muscular dystrophy
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Mroczek, M.; Durmus, H.; Töpf, A.; Parman, Y.; Straub, V. Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features. Genes 2020, 11, 716.

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