کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6041668 | 1189310 | 2011 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. We retrospectively evaluated 53 MFM patients from 35 Spanish families. Studies included neurologic exam, muscle imaging, light and electron microscopic analysis of muscle biopsy, respiratory function testing and cardiologic work-up. Search for pathogenic mutations was accomplished by sequencing of coding regions of the six genes known to cause MFM. Mutations in MYOT were the predominant cause of MFM in Spain affecting 18 of 35 families, followed by DES in 11 and ZASP in 3; in 3 families the cause of MFM remains undetermined. Comparative analysis of DES, MYOT and ZASP associated phenotypes demonstrates substantial phenotypic distinctions that should be considered in studies of disease pathogenesis, for optimization of subtype-specific treatments and management, and directing molecular analysis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 21, Issue 8, August 2011, Pages 533-542
Journal: Neuromuscular Disorders - Volume 21, Issue 8, August 2011, Pages 533-542
نویسندگان
Montse Olivé, Zagaa Odgerel, Amaia MartÃnez, Juan José Poza, Federico GarcÃa Bragado, Ramón J. Zabalza, Ivonne Jericó, Laura Gonzalez-Mera, Alexey Shatunov, Hee Suk Lee, Judith Armstrong, ElÃas MaravÃ, Maria Ramos Arroyo, Jordi Pascual-Calvet,