The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype

Medicine & Life Sciences

• Limb-girdle muscular dystrophy type 2H 100%
• Tripartite Motif Proteins 77%
• Missense Mutation 50%
• Phenotype 29%
• Mutation 19%
• Proteins 17%
• Bardet-Biedl Syndrome 10%
• Mutant Proteins 7%
• Gene Expression 4%
• Messenger RNA 3%