Conclusions
In this study, we reported two CMT 2O cases carrying DYNC1H1
c.1792C>T/p.R598C and a novel site, DYNC1H1
c.790C>G/p.R264G heterozygous mutations, respectively,
clinically manifesting delayed motor milestones, muscle weakness and
wasting of lower limbs and normal sensation. By systematically reviewing
previous publications, we found that SMA-LED and CMT2O patients caused
by DYNC1H1 mutations showed generally similar clinical phenotypes
with some differences that may provide references for early diagnosis
and differentiation of the two disease entities, such as the differences
in the distribution pattern of muscle impairment, sensory system
involvement, etc. Our findings also suggested that mutations in the DYN1
region of DYNC1H1 may be correlated with more severe clinical phenotype
and more complicated manifestations. In addition, CNS involvement is
also more common in such patients. The genotype-phenotype correlation
may reflect the pathogenesis underlying dyneinopathy caused byDYNC1H1 mutations.