Table 1. Molecular analysis of Argentinean patients with X-linked adrenoleukodystrophy.
| AMN | 2 Phenotype | 1cDNA mutation | Protein level | Exon/Intron | Polymorphisms | Exon/Intron | Protein level |
| 1 | AMN | c.2006A>G | p.His669Arg | 10 | c.55G>T | 1 | p.Ala19Ser |
| c.1992-32C>T | 9 | ||||||
| 2 | CCALD | c.1137dupC | p.Glu380Argfs*21 | 3 | c.1992-32C>T | 9 | |
| c.2019C>T | 10 | p.Phe673Phe | |||||
| 3 | AO | c.1022C>A | p.Ala341Asp | 2 | c.1634+14T>A | 6 | |
| c.1992-32C>T | 9 | ||||||
| 4 | AO | c.1081+5G>C | Splice mutation | c.1548G>A | 6 | p.Leu516Leu | |
| r.907_1494del | p.Leu303_Glu498 | IVS2 | c.1992-32C>T | 9 | |||
| 5 | Asymptomatic | c.1640A>G | p.Tyr547Cys | 7 | |||
| 6 | CCALD | c.1714_1725dek12bp | p.Ser572_Asp575del | 7 | |||
| 7 | Adolescent cerebral ALD | c.761delC | p.Thr254Argfs*82 | 1 | c.1634+14T>A | 6 | |
| 8 | –- | c.1259A>C | p.His420Pro | 1 | |||
| 9 | AMN | c.2006A>G | p.His669Arg | 10 | c.1992-32C>T | 9 | |
| 10 | CCALD | c.852_853insACTC | p.Ser284fs*16 | 1 |
1
Nucleotides numbered reflects cDNA numbering with +1 corresponding to the A of the ATG initiation codon in the reference sequence (NM000033), according to journal guidelines (www.hgvs.org/mutnomen). The initiation codon is codon 1.
2
CCALD-Childhood adrenoleukodystrophy, AMN-adrenomyeloneuropathy, AO- Addison only.