کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1999823 | 1065875 | 2006 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II](/preview/png/1999823.png)
چکیده انگلیسی
We report a patient with relatively mild Leigh syndrome and mitochondrial respiratory chain complex II deficiency caused by a homozygous G555E mutation in the nuclear encoded flavoprotein subunit of succinate dehydrogenase. This mutation has previously been reported in a lethal-infantile presentation of complex II deficiency. Such marked phenotypic heterogeneity, although typical of heteroplasmic mutations in the mitochondrial genome, is unusual for nuclear mutations. Comparable activities and stability of mitochondrial respiratory chain enzymes were demonstrated in both patients, so other reasons for the phenotypic variability are considered.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 89, Issue 3, November 2006, Pages 214-221
Journal: Molecular Genetics and Metabolism - Volume 89, Issue 3, November 2006, Pages 214-221
نویسندگان
Alistair T. Pagnamenta, Iain P. Hargreaves, Andrew J. Duncan, Jan-Willem Taanman, Simon J. Heales, John M. Land, Maria Bitner-Glindzicz, James V. Leonard, Shamima Rahman,