Genomic coordinate 9:133,351,758
Here I present: “Leigh Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (SURF1) 萊氏症候群。 icd10=G31.82
INTRODUCTION.
Leigh syndrome (subacute necrotizing encephalomyelopathy) is a progressive neurodegenerative disorder that primarily affects the central nervous system (CNS) especially the brainstem and basal ganglia. It usually presents in infancy or early childhood.
There evidence that Leigh syndrome is caused by mutation in the surfeit type-1 (SURF1) gene encoded on cytogenetic location 9q34.2 and genomic coordinate 9:133,351,758. The SURF1 gene encodes an assembly factor of mitochondrial complex IV (COX), the terminal component of the mitochondrial respiratory chain.
