MYO18B

Publications

Alazami AM et al. A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B. J Med Genet. 2015;52(6):400-404. PMID: 25748484.

Altuame FD et al. Further delineation of MYO18B‐related autosomal recessive Klippel‐Feil syndrome with myopathy and facial dysmorphism. Am J Med Genet A. 2021;185(2):370-376. PMID: 33179433.

Brunet T et al. A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions. Gene. 2020;742:144542. PMID: 32184166.

Malfatti E et al. A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy. J Neuromuscul Dis. 2015;2(3):219-227. PMID: 27858739.