{Reference Type}: Case Reports
{Title}: Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report.
{Author}: Chalipat S;Talewad S;Gupta A;Bahal M;Mane SV;
{Journal}: Cureus
{Volume}: 16
{Issue}: 7
{Year}: 2024 Jul
暂无{DOI}: 10.7759/cureus.63828
{Abstract}: A class of genetically based congenital myopathies known as nemaline myopathies is defined by the development of nemaline rods within muscle fibers. We present a case involving an eight-year-old boy who presented with a history of delayed motor development, proximal muscle weakness, and neck flexor weakness. Muscle enzymes were normal, and electrophysiological studies revealed a myopathic pattern. Nemaline myopathy (NM) was diagnosed with the help of clinical exome sequencing, which showed a compound heterozygous mutation with a novel variant in the nebulin (NEB) gene.