3. Discussion Desminopathy manifests with a variety of phenotypes including skeletal,
cardiac, and smooth muscle myopathy, neuropathy, respiratory dysfunction, facial paralysis
and cataracts that may be present in some cases and absent in others. Wide phenotypic
variability depends on the type of inheritance and the location of mutations within the
relatively large and structurally and functionally complex desmin molecule. The phenotype
may further be influenced by interactions between desmin and other intermediate filaments …