# Nemaline Myopathy With a Compound Heterozygous Mutation: A Case Report

## TL;DR

This case report describes an 8-year-old boy diagnosed with nemaline myopathy due to a rare genetic mutation in the nebulin gene.

## Contribution

The study reports a novel compound heterozygous mutation in the NEB gene associated with nemaline myopathy.

## Key findings

- The patient exhibited delayed motor development and muscle weakness consistent with nemaline myopathy.
- Clinical exome sequencing identified a compound heterozygous mutation in the NEB gene, including a novel variant.
- Electrophysiological studies confirmed a myopathic pattern, supporting the diagnosis.

## 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.