Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up
Yazarlar (6)
Dr. Öğr. Üyesi Sevcan MERCAN
Kafkas Üniversitesi, Türkiye
Sibel Aylin Ugur Iseri
Istanbul Üniversitesi, Türkiye
Remzi Yigiter
Hatem Private Hospital, Türkiye
Nihan Hande Akcakaya
Istanbul Üniversitesi, Türkiye
Esen Saka
Hacettepe Üniversitesi, Türkiye
Zuhal Yapici
İstanbul Tıp Fakültesi, Türkiye
| Makale Türü | Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale) | ||
| Dergi Adı | Neurocase (Q4) | ||
| Dergi ISSN | 1355-4794 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 02-2022 |
| Cilt / Sayı / Sayfa | 28 / 1 / 37–41 | DOI | 10.1080/13554794.2021.2022702 |
| Makale Linki | https://www.tandfonline.com/toc/nncs20/current | ||
| Özet |
| Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological disease with childhood or adult onset. It is a subtype of clinically and genetically heterogeneous group of disorders, collectively known as neurodegeneration with brain iron accumulation. MPAN is generally associated with biallelic pathogenic variants in C19orf12. Herein, we describe genetic and clinical findings of two MPAN cases from Turkey. In the first case, we have identified the relatively common pathogenic variant of C19orf12 in the homozygous state, which causes late-onset MPAN. The second case was homozygous for an essential splice-site variation. |
| Anahtar Kelimeler |
| C19orf12 | Mitochondrial membrane protein-associated neurodegeneration (MPAN) | Neurodegeneration with brain iron accumulation (NBIA) | rare disease | Whole exome sequencing (WES) |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| SCOPUS | 3 |
| Google Scholar | 3 |