Four Individuals with a Homozygous Mutation in Exon 1f of thePLECGene and Associated Myasthenic Features

Mroczek M., DURMUŞ TEKÇE H., Topf A., Parman Y., Straub V.

GENES, cilt.11, sa.7, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11 Sayı: 7
  • Basım Tarihi: 2020
  • Doi Numarası: 10.3390/genes11070716
  • Dergi Adı: GENES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, Directory of Open Access Journals
  • İstanbul Üniversitesi Adresli: Evet

Özet

We identified the known c.1_9del mutation in thePLECgene 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 withPLECmutations and the role of plectin in the neuromuscular junction.