Myopathy with tubular aggregates (Q100772)

Tubular aggregate myopathy is a genetically heterogeneous, rare nosological entity characterised by tubular aggregates as the main pathological hallmark on muscle biopsy. Tubular aggregates are regular arrays of tubules derived from the sarcoplasmic reticulum and can also occasionally be found as an accompanying feature in other hereditary myopathies or congenital myasthenic syndromes. Pure form is usually sporadic or follows an autosomal dominant mode of inheritance, and is clinically characterised by myalgias, cramps and muscle stiffness, with or without weakness with a predominantly proximal distribution.