Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome

H Alrohaif, A Töpf, T Evangelista, M Lek… - Neurology …, 2018 - AAN Enterprises
H Alrohaif, A Töpf, T Evangelista, M Lek, D McArthur, H Lochmüller
Neurology: Genetics, 2018AAN Enterprises
Fusion of single-nucleated myoblasts is essential for the formation of multinucleated
myocytes. Mechanisms that regulate myoblast fusion have been a focus of recent studies. 1–
4 Transmembrane protein 8 (TMEM8C), also known as myomaker, is a highly conserved
muscle-specific transmembrane protein encoded by the MYMK gene. 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 but consists of a …
Fusion of single-nucleated myoblasts is essential for the formation of multinucleated myocytes. Mechanisms that regulate myoblast fusion have been a focus of recent studies.1–4 Transmembrane protein 8 (TMEM8C), also known as myomaker, is a highly conserved muscle-specific transmembrane protein encoded by the MYMK gene. 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 but consists of a smaller number of mononucleated cells indicating failure of myoblast cell fusion.1 Myomaker is also expressed during muscle regeneration when it coordinates 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 regenerate.5
American Academy of Neurology