Myotilinopathy
Classification according to ICD-10 | |
---|---|
71.8 | Other primary myopathies |
ICD-10 online (WHO version 2019) |
Myotilinopathies are a group of hereditary muscle diseases ( myopathies ) caused by mutations in the MYOT gene ( allelic diseases ). MYOT codes for the protein myotilin .
The following diseases are associated with myotilin mutations:
- Girdle Dystrophy 1A (LGMD1A),
- Myofibrillary Myopathy 3 (MFM3) and
- Spheroid body myopathy .
swell
- 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).