Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.

Abstract excerpt

Hereditary nemaline myopathy (NM) is one of the most common congenital myopathies with the histopathological findings of nemaline bodies. We used targeted next-generation sequencing to identify causative mutations in 48 NM patients with confirmed myopathological diagnosis, analyze the mutational spectrum and phenotypic features. Furthermore, reverse transcription polymerase chain reaction (RT-PCR) was used to...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Actins
• Share to High-Throughput Nucleotide Sequencing