Condition: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
rs267607156
in
TTN-AS1;TTN
gene and
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
PMID 12891679
2003 Tibial muscular dystrophy in a Belgian family.
PMID 12145747
2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
rs281864928
in
TTN;TTN-AS1
gene and
TIBIAL MUSCULAR DYSTROPHY, TARDIVE
PMID 12891679
2003 Tibial muscular dystrophy in a Belgian family.
PMID 12145747
2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
PMID 22335739
2012 Truncations of titin causing dilated cardiomyopathy.