Gene table: search width pubmed_id = 24856141


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myopathy with rigid spine and distal joint contractures (Formerly LGMD2Y) - (AR)
1.9
24856141
30723199
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1
* LAP1B related muscular dystrophy
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y
* Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC
* Congenital myasthenic syndrome