This website provides information on patients with mutations in the MYH2 gene, including clinical data, molecular data, management and research options.

Dominant as well as recessive mutations in MYH2 can cause skeletal myopathy.
Autosomal dominant myosin heavy chain (MyHC) IIa myopathy, which has also been referred to as “autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia and rimmed vacuoles”, was originally identified as a muscle disorder caused by a heterozygous missense mutation in MYH2. Recessive truncating mutations in MYH2 (homozygous or compound heterozygous) are associated with minor or moderate generalized muscle weakness including facial muscle weakness.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the MYH2 gene.

Homa Tajsharghi, PhD, Professor, University of Skövde, Skovde, Sweden, homa.tajsharghi@his.se