Homozygous Recessive MYH2 Mutation Mimicking Dominant MYH2 Associated Myopathy

External ophthalmoplegia is seen in a wide variety of neuromuscular disorders including congenital myopathies, mitochondrial disorders, congenital myasthenic syndromes, and oculopharyngeal muscular dystrophy. A subset of patients with external ophthalmoplegia and variable degrees of skeletal muscle weakness have been found to harbor MYH2 mutations.[1] Autosomal dominant (AD) mutations in MYH2, have classically presented with congenital joint contractures that resolve with time, adolescent onset external ophthalmoplegia, and progressive proximal weakness.

Source: Neuromuscular Disorders - May 21, 2018 Category: Neurology Authors: Andrew R. Findlay, Matthew B. Harms, Alan Pestronk, Conrad C. Weihl Tags: Case report Source Type: research