The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives.
In 1966, a male (17 years old) was clinically examined at the National Institutes of Health (NIH) and diagnosed with Idiopathic Progressive External Ophthalmoplegia (IPEO). A muscle biopsy showing ragged-red fibers implicated mitochondrial involvement. Since the sequence of human mitochondrial DNA (mtDNA) was not determined until 1981, no genetic confirmation of the disease was possible at that time. In 1999, clinical reexamination and sequencing the entire mtDNA of the patient and living maternal relatives (mother and brother) indicated a progressive mitochondrial myopathy and the presence of the 4977 base pair (bp) deletion (the common deletion) in the patient.
Levin
Barbara C
BC
Biotechnology Division, National Institute of Standards and Technology, Gaithersburg, MD 20899-8311, USA. barbara.levin@nist.gov
Sekiguchi
Kazumasa
K
Tully
Lois A
LA
Chen
Tsu-Lee J
TL
Gropman
Andrea
A
D000293:Adolescent; D000368:Aged; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000737:chemistry* / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008928:Mitochondria / Q000235:genetics*; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
D004272:DNA, Mitochondrial