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GENATLAS PHENOTYPE |
last update : 05-06-2018 |
Symbol | AMCD2B |
Location | 11p15.5 |
HGNC id | 455 |
Name | arthrogryposis multiplex congenita, distal, type IIB |
Other name(s) |
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Corresponding gene | TNNI2 , TNNT3 |
Other symbol(s) | FSSV, DA2B, SHHS1 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neurology |
osteo-articular | |
Type | disease |
Gene product |
Name | . troponin I, skeletal, fast . troponin T3, skeletal, fast |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|  
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| TNNI2 R156X, mostly frequent
| |
Remark(s) | mutations cause increased contractility of developing fast-twitch skeletal muscles, thus causing muscle contractures and the development of the observed limb deformities (Robinson 2007) |