Abstract：
:To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific congenital myopathy. We report on a patient with such an unspecified congenital myopathy associated with distinctive facial dysmorphic features and distal arthrogryposis. Using the whole exome sequencing (WES) approach we were able to identify a novel heterozygous splice-site mutation within the TPM2 gene, showing the utility of WES in molecular diagnostics of congenital myopathies without recognizable morphological hallmarks.
journal_name
J Appl Genetjournal_title
Journal of applied geneticsauthors
Mroczek M,Kabzińska D,Chrzanowska KH,Pronicki M,Kochański Adoi
10.1007/s13353-016-0368-zsubject
Has Abstractpub_date
2017-05-01 00:00:00pages
199-203issue
2eissn
1234-1983issn
2190-3883pii
10.1007/s13353-016-0368-zjournal_volume
58pub_type
杂志文章abstract：:The number of functional teats is an important selection criterion in pig breeding. Inherited defects of the udder, such as the inverted teat, do have a considerable negative impact on the nursing ability of the sow. To investigate the genetic background of this defect and the number of functional teats in Swedish mat...
journal_title：Journal of applied genetics
pub_type： 杂志文章
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更新日期：2017-05-01 00:00:00
abstract：:Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome var...
journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
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abstract：:Streptomyces ghanaensis ATCC14672 is the producer of phosphoglycolipid antibiotics moenomycins that for almost 40 years were used worldwide as an animal feed additive. As the use of moenomycins narrows down (due to bans in the EU and some other countries), it opens the opportunity to develop much-needed antibiotics ag...
journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-015-0283-8
更新日期：2015-11-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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更新日期：2009-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：:SDS-PAGE analysis of seed globulins covered 200 accessions of the following Lens taxa: L. culinaris subsp. culinaris, L. culinaris subsp. orientalis, L. odemensis, L. ervoides, L. nigricans, L. lamottei and L. tomentosus. The number of polypeptide bands detected in particular taxa varied from 22 in L. lamottei to 35 i...
journal_title：Journal of applied genetics
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更新日期：2019-11-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03208882
更新日期：2010-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章,评审
doi：10.1007/s13353-019-00535-6
更新日期：2020-02-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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更新日期：2008-01-01 00:00:00
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pub_type： 杂志文章
doi：10.1007/s13353-017-0411-8
更新日期：2017-11-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2004-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/s13353-011-0029-1
更新日期：2011-08-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：10.1007/BF03194618
更新日期：2006-01-01 00:00:00
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pub_type： 杂志文章
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更新日期：2011-02-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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更新日期：2012-11-01 00:00:00
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pub_type： 杂志文章,评审
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doi：
更新日期：2003-01-01 00:00:00
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pub_type： 杂志文章,评审
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journal_title：Journal of applied genetics
pub_type： 杂志文章
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更新日期：2008-01-01 00:00:00
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journal_title：Journal of applied genetics
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
