Collection of previous publications
PubMed, Web of Science, CNKI and Wanfang Data were searched, applying the following search terms from January 1980 to April 2021: (mutation OR variant) AND (DYNC1H1 AND (”Charcot-Marie-Tooth Disease” OR ”CMT” OR ”hereditary motor and sensory neuropathy” OR ”HMSN” OR ”spinal muscular atrophy” OR ”SMA”)). Human Gene Mutation Database (HGMD) (http://www.hgmd.cf.ac.uk/), Online Mendelian Inheritance in Man (OMIM) (https://www.omim.org/) and Ensembl (http://uswest.ensembl.org/index.html) were also searched with the search term DYNC1H1 . All resulting publications were carefully screened. Publications that met the following criteria were included: (1) were studies involving patients with neuromuscular diseases, typically SMA-LED and CMT2O, (2) provided the exact mutation inDYNC1H1 , and (3) full-text available. We also excluded publications that: (1) were reviews, (2) were not case reports, (3) did not involve neuromuscular diseases and (4) did not focus onDYNC1H1 variants. Among included publications, families or a single patient that had no detailed description of clinical phenotypes were also excluded from this study to improve the quality for analysis. Clinical and genetic data were collected from each reported patient, including age, gender, origin, clinical manifestations, disease onset age, mutation location and variant type, etc. All the variants were checked or adjusted to ensure that they matched with reference transcript NM_001376.5 for DYNC1H1 . All the processes were performed independently by two authors and any discrepancy in the assessment would be resolved by consensus.