Abstract Nemaline myopathy (NM) is a rare congenital neuromuscular disorder characterised by muscle weakness and the presence of nemaline bodies in muscle fibres. We present a case of an 11-year-old male with mild, non-progressive lower limb muscle weakness, incidentally detected during a routine check-up. Whole exome sequencing identified compound heterozygous pathogenic variants in the nebulin gene (c.9046C>T, p.Arg3016* and c.21417+3A>G), confirming the diagnosis of autosomal recessive NM Type 2. A positive family history in his sister with a milder phenotype was noted. This report highlights the diagnostic approach, genetic considerations and implications for physical activity and rehabilitation in a paediatric patient with a mild phenotype of NM.
Singh et al. (Mon,) studied this question.