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myotilinopathy
Pathology:
- myofibrillar myopathy
- morphologically homogeneous group of neuromuscular disorders characterized by myofibrillar degradation & abnormal accumulation of proteins of the sarcomeric Z-disk
- disorganization & streaming of the Z-line
- presence of large hyaline structures
- excessive accumulation of TTID & other ectopically expressed proteins
- prominent congophilic deposits
Genetics:
- genetically heterogeneous
- autosomal dominant
- associated with defects in myotilin gene
Clinical manifestations:
- mean age of onset is 59 years
- progressive skeletal muscle weakness greater distally than proximally
- tight heel cords
- hyporeflexia
- cardiomyopathy
- peripheral neuropathy in some patients
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 182920
References
UniProt :accession Q9UBF9
OMIM :accession 182920