Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome.

ABSTRACT:

Background

Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the most frequent disorder of mitochondrial energy production in children. LS inheritance is complex because patients may present mutations in mitochondrial DNA (mtDNA) or in nuclear genes, which predominantly encode proteins involved in respiratory chain structure and assembly or in coenzyme Q10 biogenesis. However, during the last 15 years, the discovery of several genetic mutations and improved knowledge of the natural history of LS has significantly increased our understanding of this mitochondrial disorder.

Case presentation

Here we describe a 19-year-old male with clinical and neuroimaging LS diagnosed at

SUBMITTER: Aretini P 

PROVIDER: S-EPMC6054728 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature