| Yazarlar (6) |
Dr. Öğr. Üyesi Sevcan MERCAN
Kafkas Üniversitesi, Türkiye |
Sibel Aylin Ugur Iseri
Istanbul Üniversitesi, Turkey |
|
Remzi Yigiter
Private Hatem Hospital, Turkey |
|
Nihan Hande Akcakaya
Istanbul Üniversitesi, Turkey |
|
Esen Saka
Hacettepe Üniversitesi, Turkey |
|
Zuhal Yapici
İstanbul Tıp Fakültesi, Turkey |
| 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) |
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SCOPUS dergilerinde yayımlanan tam makale |
| Dergi Adı | Neurocase |
| Dergi ISSN | 1355-4794 |
| Makale Dili | İngilizce |
| Basım Tarihi | 01-2022 |
| Cilt No | 28 |
| Sayı | 1 |
| Sayfalar | 37 / 41 |
| Doi Numarası | 10.1080/13554794.2021.2022702 |
| Atıf Sayıları | |
| SCOPUS | 1 |
