Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy

Because of genetic heteroplasmy, the clinical manifestations of mitochondropathies are quite varied. Genetic testing of muscle tissue was positive for a deletion in mitochondrial DNA of about 3.5 kilobases, spanning the ATPase 6 gene to the ND5 gene.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2002-07, Vol.73 (1), p.95-95
Hauptverfasser:	Sharma, N K, Gujrati, M, Kumar, J, Kattah, J C
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biopsy Chronic Disease Deoxyribonucleic acid Diagnosis, Differential DNA Facial Muscles facial weakness Female Genetic testing Humans Letter Mitochondrial DNA Mitochondrial Myopathies - complications Mitochondrial Myopathies - diagnosis mitochondrial myopathy Muscle Weakness - etiology NMR Nuclear magnetic resonance ophthalmoplegia Ophthalmoplegia, Chronic Progressive External - etiology Thyroid gland
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Beschreibung
Zusammenfassung:	Because of genetic heteroplasmy, the clinical manifestations of mitochondropathies are quite varied. Genetic testing of muscle tissue was positive for a deletion in mitochondrial DNA of about 3.5 kilobases, spanning the ATPase 6 gene to the ND5 gene.
ISSN:	0022-3050 1468-330X
DOI:	10.1136/jnnp.73.1.95