PDLIM5, PDZ and LIM domain 5, 10611

N. diseases: 148; N. variants: 19
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 GeneticVariation group BEFREE We describe here a mother, daughter and son suffering from FHL1 myopathy with a mutation in the second LIM domain of fhl1. 22541254 2012
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 GeneticVariation group BEFREE Mutation screening of FHL1 in a myopathy family from the UK exhibiting an almost identical phenotype revealed a 3 bp insertion mutation within the second LIM domain. 18179888 2008