Format:
1 Online-Ressource
Content:
Abstract: Fusion of single-nucleated myoblasts is essential for the formation of multinucleated myocytes. Mechanisms that regulate myoblast fusion have been a focus of recent〈br〉studies.Transmembrane protein 8 (TMEM8C), also known as myomaker, is a highly conserved muscle-specific transmembrane protein encoded by the MYMK gene. 〈br〉The protein is expressed during early muscle development. Mymk-null mice die soon after birth because of skeletal muscle deficiency. In these mice, skeletal muscle tissue is present〈br〉but consists of a smaller number of mononucleated cells indicating failure of myoblast cell fusion. Myomaker is also expressed during muscle regeneration when it coordinates〈br〉fusion of satellite cells with residual muscle fibers to regenerate the damaged muscle tissue. In the absence of myomaker, adult mouse muscle tissue is unable to〈br〉regenerate. 〈br〉〈br〉In humans, mutations in the MYMK gene have recently been described in 8 individuals (aged 7–37 years) from 3 families with Carey-Fineman-Ziter syndrome (CFZS), a syndrome〈br〉encompassing a congenital myopathy with marked facial weakness and Pierre Robin sequence, among other consistent features. 〈br〉〈br〉Here, we report an additional and the oldest known patient-bearing mutations in the MYMK gene, identified through whole-exome sequencing (WES). We provide insights into disease〈br〉progression, as well as ascertain features associated with the disorder
Note:
Neurology. - 4, 2 (2018) , e226, ISSN: 2376-7839
Language:
English
DOI:
10.1212/nxg.0000000000000226
URN:
urn:nbn:de:bsz:25-freidok-1479952
URL:
https://doi.org/10.1212/nxg.0000000000000226
URL:
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-1479952
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