The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.

Abstract excerpt

Nemaline myopathy (NM) constitutes a spectrum of primary skeletal muscle disorders, the diagnosis of which is based on muscle weakness and the visualization of nemaline bodies in muscle biopsies. Mutations in several NM causal genes have been attributed to the majority of NM cases, particularly mutations in nebulin and skeletal muscle α‑actin 1 (ACTA1), which are responsible for ~70% of cases; therefore, a...

Topics

• Actinin
• Adult
• Amino Acid Sequence
• Amino Acid Substitution
• Child
• DNA Mutational Analysis
• Exome
• Female
• High-Throughput Nucleotide Sequencing
• Humans
• Male
• Models, Molecular