Article
Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
Molecular genetics & genomic medicine - 1 Nov 2017
Konersman Chamindra G, Freyermuth Fernande, Winder Thomas L, Lawlor Michael W, Lagier-Tourenne Clotilde, Patel Shailendra B
Abstract excerpt
BACKGROUND: Nemaline myopathy (NEM) is one of the three major forms of congenital myopathy and is characterized by diffuse muscle weakness, hypotonia, respiratory insufficiency, and the presence of nemaline rod structures on muscle biopsy. Mutations in troponin T1 (TNNT1) is 1 of 10 genes known to cause NEM. To date, only homozygous nonsense mutations or compound heterozygous truncating or internal deletion...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Homozygote
- Humans
- Male
- Muscle, Skeletal
- Mutation, Missense
- Myopathies, Nemaline
- Pedigree
- Polymorphism, Single Nucleotide