Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
TTN Titin       | 2q31 | * Congenital myopathy with fatal cardiomyopathy - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101) * Centronuclear myopathy related to TTN - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101) * LGMDR10 (Formerly LGMD2J) - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101) * Lethal Congenital Contracture Syndrome related to TTN - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101) * Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)* Tibial muscular dystrophy, tardive - TMD (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)* Hereditary myopathy with early respiratory failure - HMERF (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)* Cardiomyopathy, dilated, 1G - CMD1G (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)* Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101) |