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Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype
- Source :
- Neuromuscular disorders : NMD. 18(3)
- Publication Year :
- 2007
-
Abstract
- Point mutations in mtDNA-encoded tRNA genes frequently cause isolated myopathies but rarely cause the facioscapulohumeral phenotype. We report on a patient affected with chronic progressive weakness of facioscapulohumeral/peroneal muscles whose muscle biopsy showed a mitochondrial myopathy. mtDNA direct sequencing and RFLP analysis revealed a heteroplasmic transition T12313C which disrupts a conserved site in the TΨC stem of the tRNALeu(CUN) gene and fulfills the accepted criteria of pathogenicity. A partial deletion of the nuclear DNA D4Z4 region with residual repeat sizes of 25 kb was also found in the patient and in her mother. This is the first reported case of mitochondrial myopathy/facioscapulohumeral muscular dystrophy (FSHD) “double trouble”.
- Subjects :
- Mitochondrial DNA
RNA, Transfer, Leu
Biopsy
Molecular Sequence Data
Biology
DNA, Mitochondrial
Mitochondrial myopathy
medicine
Facioscapulohumeral muscular dystrophy
Humans
FSHD
mtDNA
Muscle, Skeletal
Genetics (clinical)
Genetics
Muscle biopsy
medicine.diagnostic_test
Transition (genetics)
Base Sequence
Point mutation
Middle Aged
medicine.disease
Molecular biology
Heteroplasmy
Muscular Dystrophy, Facioscapulohumeral
Phenotype
Neurology
Pediatrics, Perinatology and Child Health
Transfer RNA
Nucleic Acid Conformation
Female
Neurology (clinical)
Gene Deletion
Polymorphism, Restriction Fragment Length
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 18
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Neuromuscular disorders : NMD
- Accession number :
- edsair.doi.dedup.....c11ec6db490ea3254f1b04e369511741