Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation.
Journal of neurology | 2021-02-01 | PMID 32897397
Khani Marzieh, Taheri Hanieh, Shamshiri Hosein and 7 more
