Mitochondrial myopathy associated with a novel mutation in mtDNA.
Neuromuscul Disord
; 17(8): 651-4, 2007 Aug.
Article
em En
| MEDLINE
| ID: mdl-17588757
ABSTRACT
A 6-year-old boy had progressive muscle weakness since age 4 and emotional problems diagnosed as Asperger syndrome. His mother and two older siblings are in good health and there is no family history of neuromuscular disorders. Muscle biopsy showed ragged-red and cytochrome coxidase (COX)-negative fibers. Respiratory chain activities were reduced for all enzymes containing mtDNA-encoded subunits, especially COX. Sequence analysis of the 22 tRNA genes revealed a novel G10406A base substitution, which was heteroplasmic in multiple tissues of the patient by RFLP analysis (muscle, 96%; urinary sediment, 94%; cheek mucosa, 36%; blood, 29%). The mutation was not detected in any accessible tissues from his mother or siblings. It appears that this mutation arose de novo in the proband, probably early in embryogenesis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
RNA de Transferência de Arginina
/
Miopatias Mitocondriais
Tipo de estudo:
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article