Results 91 to 100 of about 15,339 (211)
Early Infantile Leigh-like Gene Defects Have a Poor Prognosis: Report and Review
Journal of Central Nervous System Disease, 2017 Solute carrier family 19 (thiamine transporter), member 3 ( SCL19A3 ) gene defect produces an autosomal recessive neurodegenerative disorder associated with different phenotypes and acronyms.
Majid Alfadhel
doaj +1 more source
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report
Emergency, 2016 Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi +3 more
doaj +1 more source
Current Topics of Progressive Cardiac Conduction Disease
Journal of Arrhythmia, Volume 42, Issue 3, June 2026.Many genes and the protein cause PCCD. Mutation of NaV1.5 or CX40 cause isolated PCCD, but mutation of lamin A/C, emerin, or desmin lead to cardiomyopathy, and PCCD. Mutation of transcription factor NCX2‐5, and Tbx5 associated with atrial septal defect and abnormal development of conduction system.
Naokata Sumitomo +7 more
wiley +1 more source
Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
Mitochondrial DNA. Part B. Resources, 2019 Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents ∼10–20% of LS.
Lía Mayorga +7 more
doaj +1 more source
Targeting Mitochondria in Aging‐Related Diseases: Therapeutic Potential and Obstacles
MedComm, Volume 7, Issue 6, June 2026.This article systematically summarized the specific mechanism of aging‐related diseases caused by mitochondrial dysfunction, and summarized the broad‐spectrum treatment methods and disease targeted treatment strategies for mitochondria. At the same time, it also pointed out the dilemma faced by mitochondrial targeted treatment.
Zijie Xiang +12 more
wiley +1 more source
Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome
, 2007 Leigh syndrome is the most common mitochondrial disorder in children characterized by necrotic lesions in the central nervous system. Both mitochondrial DNA (mtDNA) and nuclear DNA defects in the mitochondrial respiratory chain can lead to this disease ...
X. Y. Wang +27 more
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The Involvement of Copper in Leigh Syndrome [PDF]
, 2022 Leigh Syndrome is a neurodegenerative disease that presents with bilateral lesions in the brain. This condition is characterized by progressive loss of mental and movement abilities in which these symptoms start as early as three months old and usually ...
Hixon, Juanita
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A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility
Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.Pre‐classification variant selection and reanalysis of undiagnosed cases are critical to optimise the quality improvement in the clinical delivery of whole genome sequencing in rare disease. Variant selection via virtual panels can expedite interpretation but may miss clinically relevant findings, leaving cases undiagnosed for rare disease.
Sarah Sonner +9 more
wiley +1 more source
Leigh Syndrome After in Vitro Fertilization (IVF)
, 2021 Mitochondrial diseases are sporadic and very serious. The causes of these diseases are the mutations of the mitochondrial(mt) DNA (deoxyribonucleic acid) which is of maternal origin.
Albu, Alice +2 more
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