A novel variant of COL6A2 gene causing bethlem myopathy and evaluation of essential hypertension

M Gultekin Kutluk¹, Naz Kadem², Omer Bektas³, Nadide Cemre Randa⁴, Gökcen O Z Tuncer³, Pelin Albayrak³, Tuba Eminoglu⁵, Serap Tiras Teber^3
1 Department of Paediatric Neurology, Antalya Research and Training Hospital, Antalya, Turkey
² Department of Paediatrics, Antalya Research and Training Hospital, Antalya, Turkey
³ Department of Paediatric Neurology, Ankara University Faculty of Medicine, Ankara, Turkey
⁴ Department of Medical Genetics, Antalya Research and Training Hospital, Antalya, Turkey
⁵ Department of Paediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey

Correspondence Address:
M Gultekin Kutluk,
Antalya Research and Training Hospital Varlik Avenue Kazim Karabekir Street, 07100 Muratpasa, Antalya
Turkey

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_247_20