Hyaline body myopathy (Q90783)

Hyaline body myopathy is a rare congenital myopathy that manifests with subsarcolemmal hyalinized bodies in type 1 fibres. Ultrastructurally, hyalinized bodies in muscle biopsy samples appear to consist of fine filamentous or granular material and not to have a surrounding membrane. The neighbouring myofibrils were normal, with no sign of degeneration. The clinical findings are diverse, with either scapulo-peroneal weakness or limb girdle weakness. The age of onset in the patients reported varied from early childhood to the fifth decade of life.