KEGG   VARIANT: 487v1
Entry
487v1                      Variant                                 
Name
ATP2A1 mutation
Type
Loss of function
Gene
ATP2A1  ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [KO:K05853]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 108730
Network
nt06528  Calcium signaling
Disease
H01129  Brody myopathy
Reference
PMID:32040565
  Authors
Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Pereon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martinez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D
  Title
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
  Journal
Brain 143:452-466 (2020)
DOI:10.1093/brain/awz410
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