کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8277954 | 1535124 | 2014 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype-Phenotype analysis of 50 patients
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype-Phenotype analysis of 50 patients Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype-Phenotype analysis of 50 patients](/preview/png/8277954.png)
چکیده انگلیسی
The p.S113L mutation was detected in 38/40 index patients (95%) in at least one allele. Sixty percent of index patients were homozygous for this mutation. Thirteen other mutations, all in compound heterozygote form, were also identified. There was no significant difference in ages of onset, clinical and biochemical phenotype of patients with p.S113L mutation in homozygous or compound heterozygous form. The exception was a tendency of slightly higher residual enzyme activity upon malonyl-CoA inhibition in compound heterozygotes. Phenotype was also not significantly different in patients with missense mutations on both alleles and patients with truncating mutation on one allele and missense mutation on the other allele. However, the only exception was that, attacks were triggered by fasting in almost all the patients with truncating mutations. In contrast, fasting triggered the attacks only in one third of patients with missense mutations on both alleles. The data indicate that within the muscle form of CPT II deficiency, the various genotypes have only marginal influence on the clinical and biochemical phenotype.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 338, Issues 1â2, 15 March 2014, Pages 107-111
Journal: Journal of the Neurological Sciences - Volume 338, Issues 1â2, 15 March 2014, Pages 107-111
نویسندگان
Pushpa Raj Joshi, Marcus Deschauer, Stephan Zierz,