Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features
| العنوان: | Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features |
|---|---|
| المؤلفون: | Hacer Durmus, Yesim Parman, Volker Straub, Ana Töpf, Magdalena Mroczek |
| المصدر: | Genes Volume 11 Issue 7 Genes, Vol 11, Iss 716, p 716 (2020) |
| بيانات النشر: | Multidisciplinary Digital Publishing Institute, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Adult, 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Adolescent, lcsh:QH426-470, plectin, Electromyography, Article, PLEC, 03 medical and health sciences, 0302 clinical medicine, Ptosis, Genetics, medicine, Humans, Repetitive nerve stimulation, Muscular dystrophy, Child, Genetics (clinical), Myasthenic Syndromes, Congenital, medicine.diagnostic_test, business.industry, limb-girdle muscular dystrophy, Homozygote, Facial weakness, Exons, medicine.disease, myasthenia, lcsh:Genetics, Phenotype, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, Female, medicine.symptom, business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy, Muscle cramp |
| الوصف: | 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. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2073-4425 |
| DOI: | 10.3390/genes11070716 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b4f36d8f03d6adf456c1ba436f19ffTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....56b4f36d8f03d6adf456c1ba436f19ff |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20734425 |
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| DOI: | 10.3390/genes11070716 |