Sarcouncil Journal of Medicine and Surgery

Sarcouncil Journal of Medicine and Surgery

An Open access peer reviewed international Journal
Publication Frequency- Monthly
Publisher Name-SARC Publisher

ISSN Online- 2945-3534
Country of origin- PHILIPPINES
Impact Factor- 3.6
Language- English

Keywords

Editors

Epilepsy in m.3243A>G carriers

Keywords: mtDNA, respiratory chain, m.3243A>G, epilepsy.

Abstract: We read with interest the article by Chu, et al., on a 19-years-old male with mitochondrial encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome due to variant m.3243A>G in MT-TL1, which manifested phenotypically with cognitive impairment, visual hallucinations, hypoacusis, epilepsy, stroke-like lesions (SLLs), sensory-motor, axonal neuropathy, “myocarditis”, recurrent pneumothorax, and lactic acidosis [Chu, X. et al., 2022]. The patient had inherited the variant from his mother, who phenotypically manifested only with ophthalmoparesis [Chu, X. et al., 2022]. The study is excellent, but has limitations that are cause for concern and should be discussed.

Home

Journals

Policy

About Us

Conference

Contact Us

EduVid
Shop
Wishlist
0 items Cart
My account