Myofibrillar myopathies

Research output: Book/ReportBook

19 Citations (Scopus)

Abstract

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)
PublisherUnknown Publisher
Number of pages12
Volume101
DOIs
StatePublished - 2011

Publication series

NameHandbook of Clinical Neurology
Volume101
ISSN (Print)00729752

Fingerprint

Crystallins
Desmin
Muscles
Filamins
Dystrophin
Muscular Dystrophies
Neural Conduction
Muscle Weakness
Genetic Association Studies
Electromyography
Peripheral Nervous System Diseases
Cardiomyopathies
Proteins
Extremities
Myofibrillar Myopathy
Phenotype
Biopsy
Mutation
Ectopic Gene Expression

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Selcen, D., & Engel, A. G. (2011). Myofibrillar myopathies. (Handbook of Clinical Neurology; Vol. 101). Unknown Publisher. https://doi.org/10.1016/B978-0-08-045031-5.00011-6

Myofibrillar myopathies. / Selcen, Duygu; Engel, Andrew G.

Unknown Publisher, 2011. 12 p. (Handbook of Clinical Neurology; Vol. 101).

Research output: Book/ReportBook

Selcen, D & Engel, AG 2011, Myofibrillar myopathies. Handbook of Clinical Neurology, vol. 101, vol. 101, Unknown Publisher. https://doi.org/10.1016/B978-0-08-045031-5.00011-6
Selcen D, Engel AG. Myofibrillar myopathies. Unknown Publisher, 2011. 12 p. (Handbook of Clinical Neurology). https://doi.org/10.1016/B978-0-08-045031-5.00011-6
Selcen, Duygu ; Engel, Andrew G. / Myofibrillar myopathies. Unknown Publisher, 2011. 12 p. (Handbook of Clinical Neurology).
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