A clever road from myopathology to genes

Abstract

The term myofibrillar myopathy (MFM) is used to designate chronic progressive diseases of skeletal muscle, myocardium, and peripheral nerves with characteristic myopathologic features. These features include myofibrillar disorganization, accumulation of diverse myofibrillar degradation products, and aberrant expression of multiple proteins, including desmin, αB-crystallin, myotilin, β-amyloid precursor protein and dystrophin. 1,2⇓ Although MFM is not often a familial disease, in a small number of patients different gene mutations have been identified (table). In elegant studies, Nakano et al. have systematically characterized the clinical phenotypic and myopathologic features of this disease group and coined the term MFM 1 to include cases that had been previously described under different names, most commonly as desmin-storage myopathies 3 or desmin-related myopathies. 4 Because the basic abnormality in …