KEGG   VARIANT: 825v1
Entry
825v1                      Variant                                 
Name
CAPN3 mutation
Type
Loss of function
Gene
CAPN3  calpain 3 [KO:K08573]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114240
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00593  Limb-girdle muscular dystrophy
Reference
PMID:33308300
  Authors
Jahnke VE, Peterson JM, Van Der Meulen JH, Boehler J, Uaesoontrachoon K, Johnston HK, Defour A, Phadke A, Yu Q, Jaiswal JK, Nagaraju K
  Title
Mitochondrial dysfunction and consequences in calpain-3-deficient muscle.
  Journal
Skelet Muscle 10:37 (2020)
DOI:10.1186/s13395-020-00254-1
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