The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

Kose, Melis; IŞIK, ESRA; AYKUT, AYÇA; DURMAZ, ASUDE; KÖSE, ENGİN; Ersoy, Melike; Diniz, Gulden; Adebali, Ogun; Unalp, Aycan; Yilmaz, Unsal; Karaoglu, Pakize; Edizer, Selvinaz; Tekin, Hande; Ozdemir, Taha; ATİK, TAHİR; Onay, Huseyin; Ozkinay, Ferda

doi:10.1515/jpem-2020-0410

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

Kose M., IŞIK E., AYKUT A., DURMAZ A., KÖSE E., Ersoy M., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.4, ss.417-430, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 34 Sayı: 4
Basım Tarihi: 2021
Doi Numarası: 10.1515/jpem-2020-0410
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
Sayfa Sayıları: ss.417-430
Anahtar Kelimeler: Leigh syndrome, Mendelian mitochondrial disorder, next-generation sequencing, nuclear mitochondrial disorders, whole exome sequencing
Ankara Üniversitesi Adresli: Evet

Özet

Objectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD.