KEGG   DISEASE: H01129Help
Entry
H01129                      Disease                                

Name
Brody myopathy
Description
Brody myopathy is an autosomal recessive disorder of skeletal muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium reuptake. Mutations in the human ATP2A1 gene, that encodes one of the SERCA Ca(2+)-ATPases, cause Brody myopathy.
Category
Musculoskeletal disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01129  Brody myopathy
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G71  Primary disorders of muscles
    H01129  Brody myopathy
BRITE hierarchy
Pathway
Calcium signaling pathway
Gene
ATP2A1 [HSA:487] [KO:K05853]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Drogemuller C, Drogemuller M, Leeb T, Mascarello F, Testoni S, Rossi M, Gentile A, Damiani E, Sacchetto R
  Title
Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
  Journal
Genomics 92:474-7 (2008)

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