Leigh syndrome: One disorder, more than 75 monogenic causes
نویسندگان
چکیده
منابع مشابه
Leigh syndrome: One disorder, more than 75 monogenic causes.
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and nuclear). More than one-third of these disease genes have been characterized in the past 5 years alone, reflecting the significant advances made...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2015
ISSN: 0364-5134
DOI: 10.1002/ana.24551