A Childhood-Onset Nemaline Myopathy Caused by Novel Compound Heterozygote Variants in the Nebulin Gene
Jing Xu,
Jie Wu,
Xiaowen Li
et al.
Abstract:Congenital myopathies are clinically and genetically heterogeneous disorders, which often remain genetically undiagnosed for many years. Here we present a 20-year-old patient showing gradually deteriorated proximal muscle weakness and rod-shaped structures found in muscle fibers was suspected of having nemaline myopathy. Whole-exome sequencing and subsequent Sanger sequence analysis for the patient revealed a pathogenic mutation in NEB gene c.21522+3 (IVS 144) A>G and c.23722 (exon 165) A>T. Based on gen… Show more
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