Robuta

https://pubmed.ncbi.nlm.nih.gov/12428213/ myotilin Mutation found in second pedigree with LGMD1A Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness... mutationfoundsecondpedigree