Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype.

Abstract excerpt

ACTA1-related nemaline myopathy is a disorder typically presenting in the neonatal period, but later-onset cases have been described. The majority of patients carry de novo missense variants. We report a father and son with shared features of early-onset, but mild myopathic symptoms, including gross motor delay and facial weakness. Muscle biopsies showed nemaline rods. Genetic testing identified a novel splice...

Topics

• Humans
• Myopathies, Nemaline
• Male
• Muscle, Skeletal
• Adult
• Phenotype
• Actins
• Sequence Analysis, RNA
• Biopsy