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 language | English (US) |
|---|---|
| Pages (from-to) | 118-122 |
| Number of pages | 5 |
| Journal | Muscle and Nerve |
| Volume | 30 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jul 1 2004 |
| Externally published | Yes |
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Keywords
- Duchenne muscular dystrophy
- MELAS
- Mitochondrial disorder
- mtDNA mutation
ASJC Scopus subject areas
- Physiology
- Clinical Neurology
- Cellular and Molecular Neuroscience
- Physiology (medical)
Cite this
A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy. / Wong, Lee Jun C.; Wladyka, Christopher; Mardach, Rebecca.
In: Muscle and Nerve, Vol. 30, No. 1, 01.07.2004, p. 118-122.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy
AU - Wong, Lee Jun C.
AU - Wladyka, Christopher
AU - Mardach, Rebecca
PY - 2004/7/1
Y1 - 2004/7/1
N2 - 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.
AB - 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.
KW - Duchenne muscular dystrophy
KW - MELAS
KW - Mitochondrial disorder
KW - mtDNA mutation
UR - http://www.scopus.com/inward/record.url?scp=3042815537&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=3042815537&partnerID=8YFLogxK
U2 - 10.1002/mus.20045
DO - 10.1002/mus.20045
M3 - Article
C2 - 15221888
AN - SCOPUS:3042815537
VL - 30
SP - 118
EP - 122
JO - Muscle and Nerve
JF - Muscle and Nerve
SN - 0148-639X
IS - 1
ER -