Condition: Myopathy, congenital nonprogressive with Moebius and Robin sequences
rs137868995
in
MYMK
gene and
Myopathy, congenital nonprogressive with Moebius and Robin sequences
PMID 28681861
2017 A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
PMID 30065953
2018 Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.