LIM2, lens intrinsic membrane protein 2, 3982

N. diseases: 23; N. variants: 3
Disease: Muscle Rigidity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.010 GeneticVariation phenotype BEFREE We report a novel LIM2 domain mutation in FHL1 in a previously reported family with RBM with cytoplasmic bodies and spinal rigidity. 20571991 2010