Certain muscular dystrophies are marked by absence or reduction of mutant proteins,
foremost dystrophinopathies and sarcoglycanopathies. Conversely, other sporadic and
familial neuromuscular conditions are marked by a surplus of proteins present in a granular
or filamentous form, such as desmin-related myopathies, actinopathy and, perhaps, hyaline
body myopathy. This emerging group of congenital myopathies is clinically,
immunohistochemically, and genetically diverse. Clinically, early-and late-onset diseases …