Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature

Figure 5

Summary of the reported mutation sites and clinical manifestations from the database of UniProt (https://www.uniprot.org/uniprot/) and reported references [22–35]. The clinical types include childhood and adolescent cerebral ALD (CCALD and adoles ALD), adult ALD, AMN (adrenomyeloneuropathy), adrenal insufficiency-only (AIO), complicated ALD which cannot be classified, and asymptomatic or presymptomatic types.