Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
TTN
Titin




2q31
* Congenital myopathy with fatal cardiomyopathy - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Centronuclear myopathy related to TTN - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* LGMDR10 (Formerly LGMD2J) - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Lethal Congenital Contracture Syndrome related to TTN - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Tibial muscular dystrophy, tardive - TMD (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Hereditary myopathy with early respiratory failure - HMERF (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Cardiomyopathy, dilated, 1G - CMD1G (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
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