Novel autosomal dominant TNNT1 mutation causing nemaline myopathy

ConclusionThis novel mutation alters a residue that is highly conserved among vertebrates. This report highlights not only a family with autosomal dominant inheritance of NEM, but that this novel mutation likely acts via a dominant negative mechanism.

Novel heterozygous missense TNNT1 mutation with a mild phenotype of nemaline myopathy.

Source: Molecular Genetics & Genomic Medicine - July 1, 2017 Category: Genetics & Stem Cells Authors: Chamindra G. Konersman, Fernande Freyermuth, Thomas L. Winder, Michael W. Lawlor, Clotilde Lagier ‐Tourenne, Shailendra B. Patel Tags: Original Article Source Type: research