KEGG   VARIANT: 9499v1
Entry
9499v1                      Variant                                
Name
MYOT mutation
Type
Loss of function
Gene
MYOT  myotilin [KO:K19875]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604103
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00595  Myofibrillar myopathies
Reference
  Authors
Wadmore K, Azad AJ, Gehmlich K
  Title
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
  Journal
Int J Mol Sci 22:ijms22063058 (2021)
DOI:10.3390/ijms22063058
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