Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia
β Scribed by Yo-Ichi Takei; Shu-Ichi Ikeda; Nobuo Yanagisawa; Wataru Takahashi; Morie Sekiguchi; Tetsuya Hayashi
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 516 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0148-639X
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## Abstract We report a patient with an autosomal dominant chronic progressive external ophthalmoplegia phenotype associated with multiple mtDNA deletions in muscle from a family in which linkage analysis excluded mutations in DNA polymerase Ξ³ (POLG), adenine nucleotide translocase (ANTβ1) or C10or
In a newborn boy with characteristics of Brachmannde Lange syndrome (BDLS) high temperatures were observed on the second day aRer birth and recurred 2-6 times daily during the 7 months of the patient's life. After transient hypertonia hypotonia developed. In muscle biopsy specimen taken on the 51st
Large-scale deletions and point mutations of the mitochondrial DNA are generally accepted as being involved in the pathogenesis of diseases associated with mitochondrial encephalomyopathies such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia (CPEO). We screened suspected p