Myofibrillar myopathies (MFMs) are typically autosomal dominant myopathies with late onset progressive muscle weakness and symptoms initially evident in the distal muscle groups. However, there is a significant variability in the presentation of these diseases, with the age of onset ranging from infantile to late seventies; the involvement of the heart, respiratory muscles, distal and proximal muscle groups; and severity covering the full spectrum from mild muscle weakness to premature lethality.
|Title of host publication||Skeletal Muscle-From Myogenesis to Clinical Relations|
|Place of Publication||Croatia|
|Pages||317 - 358|
|Number of pages||42|
|Publication status||Published - 2012|