Sep 2026
Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy.
MYO18B is an unconventional class XVII myosin that is predominantly expressed in muscle and heart tissue. Recessive pathogenic MYO18B variants cause a rare myopathy associated with Klippel-Feil syndrome (KFS), facial dysmorphism, short stature and less frequently cardiomyopathy. Reported neuromuscular manifestations we...
I. Zaharieva, S. Donkervoort, Cheryl Longman et al.
· Neuromuscular Disorders · 0 citations