Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature

ConclusionThe threshold for investigating MELAS syndrome in children with suspicious neurological symptoms should be low. If blood m.3243A>G analysis is negative, yet clinical suspicion remains high, invasive testing or further interrogation of the mitochondrial genome should be considered.

Source: Molecular Genetics & Genomic Medicine - April 27, 2022 Category: Genetics & Stem Cells Authors: Lydia M. Seed, Andrew Dean, Deepa Krishnakumar, Poe Phyu, Rita Horvath, Pooja Devi Harijan Tags: ORIGINAL ARTICLE Source Type: research