Myofibrillar myopathies

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25 Scopus citations


Myofibrillar myopathies (MFMs) represent a group of muscular dystrophies with a similar morphological phenotype. The diagnosis is established by muscle biopsy. The MFMs are characterized by a distinct pathological pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins that include desmin, αB-crystallin, dystrophin, and sometimes congophilic material. The clinical features of MFMs are more variable. These include progressive muscle weakness that often involves or begins in distal muscles, but limb-girdle or scapuloperoneal distributions can also occur. Cardiomyopathy and peripheral neuropathy are frequent associated features. Electromyography of the affected muscles reveals myopathic motor unit potentials and abnormal irritability, often with myotonic discharges. Rarely, neurogenic motor unit potentials or slowing of nerve conduction velocities are present. To date, all MFM mutations have appeared in Z-disk-associated proteins: namely, desmin, αB-crystallin, myotilin, ZASP, filamin C, and Bag3. However, in the majority of patients with MFM, the disease gene awaits discovery.

Original languageEnglish (US)
Pages (from-to)143-154
Number of pages12
JournalHandbook of clinical neurology
StatePublished - 2011

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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