Journal article

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

Shamima Rahman, David Thorburn

Published : 2020


The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of nuclear gene-encoded Leigh syndrome spectrum (LSS), management, especially treatable disorders, and relevant genetic counseling issues. The following are the goals of this overview. GOAL 1: Describe the clinical characteristics of nuclear gene-encoded LSS. GOAL 2: Review the genetic causes of nuclear gene-encoded LSS. GOAL 3: Provide an evaluation strategy to identify the genetic cause of nuclear gene-encoded LSS in a proband (when possible). GOAL 4: Review management of nuclear gene-encoded LSS, especially treatable disorders. GOAL 5: Inform genetic counseling of family members of an individu..

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Awarded by NLM NIH HHS