A Rare Case of Mild Nemaline Myopathy in an 11-year-old Male Athlete: Challenges in Diagnosis and Physical Activity Management
Year: 2026
Type: article
Study design: Case Report
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.
Authors: Sagolsem Adarsh Singh, Akoijam Joy Singh
Institution: Regional Institute of Medical Sciences
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7160304999