Novel homozygous recessive MYH2 variant associated with an autosomal dominant clinical pathological phenotype

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Mutations in MYH2 cause both dominant and recessively inherited myopathies. Patients with dominantly inherited MYH2 missense mutations present with congenital joint contractures that resolve with age, external opthalmoplegia, and later onset progressive proximal limb weakness. Muscle biopsy reveals rimmed vacuoles and intranuclear and cytoplasmic inclusions, prompting this entity to initially be described as hereditary inclusion body myopathy 3. In contrast, a distinct phenotype occurs in patient’s with recessive MYH2 mutations.

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