biostudies-literatureHauser MANINDS NIH HHS1428-32https://www.ebi.ac.uk/biostudies/studies/S-EPMC378586biostudies-literatureUnknown71(6)Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene in a large, North American family of German descent. Here, we report the mutation screening of an additional 86 families with a variety of neuromuscular pathologies. We have identified a new myotilin mutation in an Argentinian pedigree with LGMD1 that is predicted to result in the conversion of serine 55 to phenylalanine (S55F). This mutation has not been found in 392 control chromosomes and is located in the unique N-terminal domain of myotilin, only two residues from the T57I mutation reported elsewhere. Both T57I and S55F are located oAmerican journal of human geneticsmyotilin Mutation found in second pedigree with LGMD1A.PMC378586P01 NS026630NS26630Zeppa GVance JKowaljow VSpeer MCTaratuto ALTorian UMRosa ALHauser MAConde CBPericak-Vance MAfalsemyotilin 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 progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene in a large, North American family of German descent. Here, we report the mutation screening of an additional 86 families with a variety of neuromuscular pathologies. We have identified a new myotilin mutation in an Argentinian pedigree with LGMD1 that is predicted to result in the conversion of serine 55 to phenylalanine (S55F). This mutation has not been found in 392 control chromosomes and is located in the unique N-terminal domain of myotilin, only two residues from the T57I mutation reported elsewhere. Both T57I and S55F are located o2002-01-01T00:00:00Z2002 Dec2025-05-29T20:00:14.769Z2019-03-27T00:50:14ZS-EPMC3785861242821310.1086/344532