دورية أكاديمية

Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

التفاصيل البيبلوغرافية
العنوان: Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
المؤلفون: Maike F. Dohrn, Corina Heller, Diana Zengeler, Carolin D. Obermaier, Saskia Biskup, Joachim Weis, Stefan Nikolin, Kristl G. Claeys, Ulrike Schöne, Danique Beijer, Natalie Winter, Pascal Achenbach, Burkhard Gess, Jörg B. Schulz, Lejla Mulahasanovic
المصدر: Neurological Research and Practice, Vol 4, Iss 1, Pp 1-4 (2022)
بيانات النشر: BMC, 2022.
سنة النشر: 2022
المجموعة: LCC:Neurosciences. Biological psychiatry. Neuropsychiatry
LCC:Neurology. Diseases of the nervous system
مصطلحات موضوعية: Polymerase gamma, Autosomal dominant, Axonal neuropathy, Myo-neuropathy, Mitochondrial myopathy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
الوصف: Abstract By whole-exome sequencing, we found the heterozygous POLG variant c.3542G>A; p.Ser1181Asn in a family of four affected individuals, presenting with a mixed neuro-myopathic phenotype. The variant is located within the active site of polymerase gamma, in a cluster region associated with an autosomal dominant inheritance. In adolescence, the index developed distal atrophies and weakness, sensory loss, afferent ataxia, double vision, and bilateral ptosis. One older sister presented with Charcot-Marie-Tooth-like symptoms, while the youngest sister and father reported exercise-induced muscle pain and proximal weakness. In none of the individuals, we observed any involvement of the central nervous system. Muscle biopsies obtained from the father and the older sister showed ragged-red fibers, and electron microscopy confirmed mitochondrial damage. We conclude that this novel POLG variant explains this family’s phenotype.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2524-3489
العلاقة: https://doaj.org/toc/2524-3489Test
DOI: 10.1186/s42466-022-00169-w
الوصول الحر: https://doaj.org/article/4bd218aa46e54d17948277f13d2b6aa9Test
رقم الانضمام: edsdoj.4bd218aa46e54d17948277f13d2b6aa9
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:25243489
DOI:10.1186/s42466-022-00169-w