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• W2053498879 abstract "Abstract One challenge in the molecular diagnosis of mitochondrial DNA (mtDNA) disorders is detection of a low percentage of mutant heteroplasmy. We report a patient who had a delayed molecular diagnosis of mitochondrial encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS) syndrome due to the complication of an extensive family history of another neuromuscular disease, Duchenne muscular dystrophy, and the failure to detect a low proportion of mutant A3243G mtDNA with a polymerase chain reaction (PCR)/restriction fragment length polymorphism (RFLP)/ethidium bromide detection method. Using an improved, more sensitive allele‐specific oligonucleotide (ASO) radioactive dot‐blot hybridization method, a low degree of A3243G heteroplasmy was detected in several tissues from this patient. This case underscores the importance of a sensitive mutation detection method and the need for a search for mtDNA mutations if the patient's clinical symptoms suggest a mitochondrial disorder despite the family background of another neuromuscular disease. Muscle Nerve 30: 118–122, 2004" @default.
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• W2053498879 date "2004-05-10" @default.
• W2053498879 modified "2023-10-13" @default.
• W2053498879 title "A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy" @default.
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• W2053498879 doi "https://doi.org/10.1002/mus.20045" @default.
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