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Journal of Pediatrics Review، جلد ۸، شماره ۱، صفحات ۵-۵
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| کلیدواژه‌های فارسی مقاله |
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| عنوان انگلیسی |
Laing early-onset distal myopathy due to the MYH7 mutation in an Iranian family: Distal Myopathy-1 in an Iranian family |
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| چکیده انگلیسی مقاله |
Introduction: Laing early-onset distal myopathy is a disorder with autosomal dominant inheritance pattern caused by a mutation in MYH7 gene that encodes the human β-myosin heavy chain. Most previous studies reported this disorder with mild symptoms involving foot and hand fingers extensors as early-onset and neck flexors as late-onset symptoms. In addition, previously reported cases suffered from the same mutation is reviewed in this study. Case presentation: Our study describes pathological, clinical, imaging and genetic findings in the first Iranian patient suffering from Laing distal myopathy. The subject is an eight-year-old-boy with a moderate phenotype, with upper and lower limbs involvement. He also shows a weakness in neck flexors, which has been previously reported in similar cases at early ages. A genetic study was done using the whole exome sequencing method. NGS findings revealed a c.4850-4852AGA deletion (p.k1617del) mutation in MYH7, which previously reported as the cause of Laing distal myopathy. This case is the first indication of Laing distal myopathy from Iran. Conclusions: Presenting the first Iranian patient with an already known MYH7 mutation associated withLaing distal myopathy will prove previously reported heterogeneity of this disorder's phenotype severity, morphological variation, and age of symptoms onset. |
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| کلیدواژه‌های انگلیسی مقاله |
Distal Myopathies, MPD1, MYH7, p.K1617del |
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| نویسندگان مقاله |
| Shabnam Ghazanfari-Sarabi
Novin Genetics diagnostic laboratory, Farah Abad 4, Farah Abad Boulevard, Sari, Mazandaran, Iran
| Mostafa Rayati
Radiology Department, Medical Faculty, Babol University of Medical Sciences, Babol, Mazandaran, Iran
| Mohammad Bagher Hashemi-Soteh
Immunogenetic Research center, Molecular and Cell Biology Research Centre, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran. P.O. Box. 481751665, Sari, Mazandaran, Iran, Tell : 0098-911 116 4034, Fax : 0098-151-3543087,
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| نشانی اینترنتی |
http://jpr.mazums.ac.ir/browse.php?a_code=A-10-826-1&slc_lang=en&sid=1 |
| فایل مقاله |
اشکال در دسترسی به فایل - ./files/site1/rds_journals/268/article-268-1964761.pdf |
| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Genetics |
| نوع مقاله منتشر شده |
Case Report and Review of Literature |
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