دورية أكاديمية
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers
العنوان: | Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers |
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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 |
تدمد: | 25243489 |
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DOI: | 10.1186/s42466-022-00169-w |