جهش جدید بیماری شبه پلزئوس مرزباخر-گزارشی از ایران

کریم زاده, پروانه and احمدآبادی, فرزاد and آریانی, امید and هوشمند, مسعود and خاتمی, علیرضا (1393) جهش جدید بیماری شبه پلزئوس مرزباخر-گزارشی از ایران. Iranian Journal of Radiology ــ 11 (2). e6913. شاپا 1735-1065

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Official URL: http://iranjradiol.com/?page=article&article_id=69...


New mutation of pelizaeus--merzbacher-like disease; report from iran.

English Abstract

Pelizaeus¬-Merzbacher-like disease (PMLD) is a hypomyelinating leukoencephalopathy disorder with a genetically heterogeneous pattern. Mutations in the GJA12/GJC2 gene cause one form of autosomal recessive Pelizaeus¬-Merzbacher-like disease. Here, we report a new mutation in a -10-month-old girl with nystagmus, psychomotor delay, hypotonicity, head nodding and dysmyelination from healthy second cousin parents. The genetic study showed a homozygote deletion as c902-918del in the exone 2. According to our study and recent reports from other Middle East countries, we suggest GJA12 gene mutations are common in this area, but we didnot find any previous report about this new mutation (c902-918Del).

Item Type:Article
زبان سند : انگلیسی
نویسنده مسئول :پروانه کریم زاده
نویسنده :فرزاد احمدآبادی
نویسنده :امید آریانی
نویسنده :مسعود هوشمند
نویسنده :علیرضا خاتمی
Additional Information:IF: 0.177 indexed in : PubMed , CABI , EBSCO , EMBASE , SID , Index Copernicus , Index Medicus for the WHO Eastern Mediterranesn Region (IMEMR) , ISC , Science Citation Index Expanded (SCIE), Web of Sciences, Thomson Reuters (ISI) , SCOPUS
کلیدواژه ها (انگلیسی):Pelizaeus­Merzbacher-Like Disease; Neurodegenerative Disease Leukodencephalopathy; Children
Subjects:WB Practice of Medicine
WL Nervous system
WS Pediatrics
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
ID Code:5909
Deposited By: Dr Farzad Ahmadabadi
Deposited On:10 Jun 1393 07:16
Last Modified:10 Jun 1393 07:16

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