Condition: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
rs587777431 in
TNPO3 gene and
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
PMID 31071488 2019 A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
PMID 31192305 2019 Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.
PMID 23543484 2013 Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.
PMID 31465518 2019 The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.
PMID 23667635 2013 Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.