Abstract：
PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immunofluorescence staining was undertaken on muscle biopsies from three patients using alpha dystroglycan antibody (IIH6). Genomic DNA from patients and parents was extracted from peripheral blood leukocytes. Polymerase chain reaction and DNA sequencing were employed to analyze the exons and surrounding intron sequences of the fukutin (FKTN) gene to detect mutations. Haplotype analysis was also performed on each patient and their parents. RESULTS:All patients had delayed mental and motor development, febrile convulsions, muscle weakness, and moderate to significant raised levels of serum creatine kinase (7000-11,160 U/L, 25-60×normal). Brain MRI scans showed micropolygyria and extensive dysplasia in the white matter and brainstem. Electromyography revealed myopathic changes. Muscle immunofluorescence studies demonstrated reduced IIH6 staining. Genetic testing showed compound heterozygous mutations of FKTN. Cases 1 and 2 had a c.139C>T (p.Arg47(∗)) heterozygous mutation. Case 3 had a c.346C>T (p.Gln116(∗)) heterozygous mutation. CONCLUSION:All patients had a heterozygous 3-kb insertion in the FKTN 3' untranslated region. Haplotype analyses suggested that these patients had the same haplotype as Japanese patients.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Yang H,Kobayashi K,Wang S,Jiao H,Xiao J,Toda T,Wu X,Xiong Hdoi
10.1016/j.braindev.2015.02.010subject
Has Abstractpub_date
2015-10-01 00:00:00pages
880-6issue
9eissn
0387-7604issn
1872-7131pii
S0387-7604(15)00035-2journal_volume
37pub_type
杂志文章abstract：:Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
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abstract：:In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemi...
journal_title：Brain & development
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pub_type： 杂志文章
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journal_title：Brain & development
pub_type： 杂志文章
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：1994-07-01 00:00:00
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更新日期：2020-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：
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更新日期：2012-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90128-7
更新日期：1994-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)00114-d
更新日期：1995-01-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00316-3
更新日期：2001-12-01 00:00:00
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pub_type： 杂志文章
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更新日期：2001-12-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90048-5
更新日期：1994-03-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/0387-7604(93)90070-o
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80008-1
更新日期：1988-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.002
更新日期：2013-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90048-d
更新日期：1993-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2013.05.011
更新日期：2014-04-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80117-6
更新日期：1986-01-01 00:00:00
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journal_title：Brain & development
pub_type：
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更新日期：2021-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.003
更新日期：2018-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(94)90064-7
更新日期：1994-05-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.013
更新日期：2011-06-01 00:00:00
