Myofibrillary myopathy 3

from Wikipedia, the free encyclopedia
Classification according to ICD-10
G71.8 Other primary myopathies
ICD-10 online (WHO version 2019)

The myofibrillar myopathy 3 (MFM3) is a very rare, hereditary muscular disease belonging to the group of myofibrillar myopathy belongs. The disease is caused by "missense" - mutations in MYOT gene causes and autosomal - recessive inherited. In 2004, D. Selcen and AG Engel identified a total of four different heterozygous mutations in the MYOT gene in 6 unrelated people with myofibrillary myopathy , all of which are located in exon 2 of the gene whose function is not yet known. MYOT codes for the protein myotilin .

Myofibrillary myopathy 3 is differentiated from two other myotilinopathies , spheroid body myopathy and limb girdle dystrophy 1A . They are allelic diseases .

Clinical picture

The disease manifested itself in the previous cases between the ages of 50 and 77 years. The main symptoms are progressive weakness of the distal muscles and peripheral neuropathy . Cardiomyopathy has been demonstrated in some patients .

diagnosis

The creatine kinase in the blood serum is usually normal. Non-specific myopathic and neuropathic changes can be detected electromyographically . Typical changes in myofibrillary myopathy can be detected by histological examination of a muscle biopsy . Atypical muscle fibers are shown that contain dark blue and congophilic structures ( β-amyloid ) and react with antibodies directed against myotilin, alpha-B-crystallin , dystrophin and desmin .

Web links

literature

  • L. Broglio, M. Tentorio, et al. a .: Limb-girdle muscular dystrophy-associated protein diseases. In: The neurologist. Volume 16, Number 6, November 2010, pp. 340-352, ISSN  1074-7931 . doi : 10.1097 / NRL.0b013e3181d35b39 . PMID 21150381 . (Review).
  • D. Selcen, AG Engel: Myofibrillar myopathies . In: Robert Griggs: Muscular Dystrophies , Handbook of Clinical Neurology, Volume 101, 3rd Edition, Elsevier, May 24, 2011, ISBN 978-0-08-045031-5 , p. 149.

Individual evidence

  1. ↑ D. Selcen, AG Engel: Mutations in myotilin cause myofibrillar myopathy. In: Neurology. Volume 62, Number 8, April 2004, pp. 1363-1371, ISSN  1526-632X . PMID 15111675 .