| Literature DB >> 14743651 |
Abstract
Mitochondrial disorders cause a wide spectrum of diseases in children. Their presentation is nonspecific with encephalomyopathy, failure to thrive, seizures, ophthalmoplegia, and sensorineural hearing loss. These disorders are progressive and are aggravated by fever and infections. They can be caused by mutations in nDNA or mtDNA. Diagnosis requires a complex battery of clinical studies coupled with diagnostic findings on muscle biopsy (abnormal structure, histochemistry, or enzyme studies) or DNA testing. Therapy for mitochondrial disorders remains largely ineffective.Entities:
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Year: 2003 PMID: 14743651 DOI: 10.1016/s0733-8619(03)00015-x
Source DB: PubMed Journal: Neurol Clin ISSN: 0733-8619 Impact factor: 3.806