کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3079444 | 1189304 | 2011 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
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چکیده انگلیسی
Mutations in the αB-crystallin (CRYAB) gene, encoding a small heat shock protein with chaperone function, are a rare cause of myofibrillar myopathy with autosomal-dominant inheritance, late-onset and moderate severity. We report a female infant presenting from 4 months with profound muscle stiffness, persistent creatine kinase elevation and electromyography characterized by spontaneous electrical activity and pseudomyotonic discharges. Muscle biopsy suggested a myofibrillar myopathy and genetic testing revealed homozygosity for the CRYAB mutation c.343delT (p.Ser115ProfsX14). These findings suggest a severe, recessively inherited form of CRYAB-related myofibrillar myopathy. Profound muscle stiffness as the main presenting feature indicates αB-crystallin as a potent modifier of muscle contractility.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 21, Issue 1, January 2011, Pages 37-40
Journal: Neuromuscular Disorders - Volume 21, Issue 1, January 2011, Pages 37-40
نویسندگان
Katharine M.L. Forrest, Safa Al-Sarraj, Caroline Sewry, Stefan Buk, S. Veronica Tan, Matthew Pitt, Andrew Durward, Marilyn McDougall, Melita Irving, Michael G. Hanna, Emma Matthews, Anna Sarkozy, Judith Hudson, Rita Barresi, Kate Bushby, Heinz Jungbluth,