%0 Case Reports
%T Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report.
%A Chalipat S
%A Talewad S
%A Gupta A
%A Bahal M
%A Mane SV
%J Cureus
%V 16
%N 7
%D 2024 Jul
%M 39099920
暂无%R 10.7759/cureus.63828
%X 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.