Expanding the Phenotypic and Genetic Spectrum of Neuromuscular Diseases Caused by DYNC1H1 Mutations.

ABSTRACT:

Objectives

Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) and Charcot-Marie-Tooth diseasetype 2O (CMT2O) are two kinds of hereditary neuromuscular diseases caused by DYNC1H1 mutations. In this study, we reported two patients with SMALED1 caused by DYNC1H1 mutations. The genotype-phenotype correlations were further analyzed by systematically reviewing previous relevant publications.

Materials and methods

Two patients' with SMALED1 and their parents' clinical data were collected, and detailed clinical examinations were performed. WES was then applied, which was confirmed by Sanger sequencing. PubMed, Web of Science, CNKI, and Wanfang Data were searched, and all publications that met the inclusion criteria were carefully screened. Any indivi

SUBMITTER: Li JT 

PROVIDER: S-EPMC9309508 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature