کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3081223 | 1581087 | 2006 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation](/preview/png/3081223.png)
چکیده انگلیسی
We report on a 2-year-old male child with both nemaline myopathy and hypertrophic cardiomyopathy (HCM). Sequencing of the ACTA1 gene showed a “de novo” missense heterozygous mutation a > g in exon 7 (Lys336Glu). Two-dimensional electrophoresis showed 28% mutant actin present in his muscle biopsy. Actin was isolated from the muscle biopsy and examined by in vitro motility assay. The sliding speed was 13 ± 3% less than normal and the affinity of actin for the Z-line protein α-actinin was reduced 10 fold. This is the first report on a hypertrophic cardiomyopathy associated with nemaline myopathy and an ACTA1 mutation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 16, Issues 9â10, October 2006, Pages 548-552
Journal: Neuromuscular Disorders - Volume 16, Issues 9â10, October 2006, Pages 548-552
نویسندگان
Adele D'Amico, Claudio Graziano, Giuseppe Pacileo, Stefania Petrini, Kristen J. Nowak, Renata Boldrini, Adam Jacques, Juan-Juan Feng, Berardino Porfirio, Caroline A. Sewry, Filippo M. Santorelli, Giuseppe Limongelli, Enrico Bertini, Nigel Laing,