KEGG   VARIANT: 7138v1
Entry
7138v1                      Variant                                
Name
TNNT1 mutation
Type
Loss of function
Gene
TNNT1  troponin T1, slow skeletal type [KO:K10372]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191041
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00698  Nemaline myopathy
Reference
PMID:35165004
  Authors
Lee S, Eum J, Park S, Ki S, Hwang BJ, Kee Y, Chae JH
  Title
TNNT1 myopathy with novel compound heterozygous mutations.
  Journal
Neuromuscul Disord 32:176-184 (2022)
DOI:10.1016/j.nmd.2021.12.003
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