کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3081407 1189375 2006 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
SOD1 gene mutations in Italian patients with Sporadic Amyotrophic Lateral Sclerosis (ALS)
چکیده انگلیسی

Mutations in the SOD1 gene exons and exon/intron boundaries were searched in 66 sporadic and 4 familial Italian ALS cases consecutively referred to our centre from different Italian regions. A mutation was found in three sporadic cases (4.5%): a new nonsense mutation in exon 5 (K136X) in a patient with a rapid and severe disease course and two previously described missense nucleotide substitutions (N65S and A95T) in two patients with a mild disease course. Comparison of the clinical characteristics with previously reported patients carrying the same or similar mutations showed a remarkable genotype–phenotype correlation. No association was found with intronic sequence variations by comparing their frequency in the patients and in 181 matched controls.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 16, Issue 11, November 2006, Pages 800–804
نویسندگان
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