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Author Mroczek, Magdalena ♦ Kabzińska, Dagmara ♦ Chrzanowska, Krystyna H. ♦ Pronicki, Maciej ♦ Kochański, Andrzej
Source SpringerLink
Content type Text
Publisher Springer Berlin Heidelberg
File Format PDF
Copyright Year ©2016
Language English
Subject Domain (in DDC) Natural sciences & mathematics ♦ Life sciences; biology
Subject Keyword TPM2 gene ♦ Unspecified congenital myopathies ♦ Whole exome sequencing ♦ Plant Genetics & Genomics ♦ Human Genetics ♦ Animal Genetics and Genomics ♦ Microbial Genetics and Genomics
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.
ISSN 12341983
Age Range 18 to 22 years ♦ above 22 year
Educational Use Research
Education Level UG and PG
Learning Resource Type Article
Publisher Date 2016-10-10
Publisher Place Berlin, Heidelberg
e-ISSN 21903883
Journal Journal of Applied Genetics
Volume Number 58
Issue Number 2
Page Count 5
Starting Page 199
Ending Page 203


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Source: SpringerLink