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

Authors :
Hacer Durmus
Yesim Parman
Volker Straub
Ana Töpf
Magdalena Mroczek
Source :
Genes, Volume 11, Issue 7, Genes, Vol 11, Iss 716, p 716 (2020)
Publication Year :
2020
Publisher :
Multidisciplinary Digital Publishing Institute, 2020.

Abstract

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.

Details

Language :
English
ISSN :
20734425
Database :
OpenAIRE
Journal :
Genes
Accession number :
edsair.doi.dedup.....56b4f36d8f03d6adf456c1ba436f19ff
Full Text :
https://doi.org/10.3390/genes11070716