A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy

Lee Jun C. Wong, Christopher Wladyka, Rebecca Mardach

Research output: Contribution to journalArticle

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)118-122
Number of pages5
JournalMuscle and Nerve
Volume30
Issue number1
DOIs
StatePublished - Jul 1 2004
Externally publishedYes

Keywords

  • Duchenne muscular dystrophy
  • MELAS
  • Mitochondrial disorder
  • mtDNA mutation

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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