Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - PubMed (original) (raw)
Review
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
2015 Oct 1 [updated 2020 Jul 16].
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- PMID: 26425749
- Bookshelf ID: NBK320989
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Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
Shamima Rahman et al.
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Excerpt
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 individual with nuclear gene-encoded LSS.
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Sections
- Summary
- 1. Clinical Characteristics of Nuclear Gene-Encoded Leigh Syndrome Spectrum
- 2. Causes of Nuclear Gene-Encoded Leigh Syndrome Spectrum
- 3. Evaluation Strategies to Identify the Genetic Cause of Nuclear Gene-Encoded Leigh Syndrome in a Proband
- 4. Management of Nuclear Gene-Encoded Leigh Syndrome
- 5. Genetic Counseling of Family Members of an Individual with Nuclear Gene-Encoded Leigh Syndrome
- Resources
- Chapter Notes
- References
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