ABCMdb

PMID: 10480364

Wichers M, Kohler W, Brennemann W, Boese V, Sokolowski P, Bidlingmaier F, Ludwig M
X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.
Hum Genet. 1999 Jul-Aug;105(1-2):116-9., [PubMed]

Sentences

No. Mutations Sentence Comment

40 ABCD1 p.Tyr212* This patient harbours two mutations (Q178 E and Y212X) in his ALD gene; these have also been solely observed in two further cases affected with AMN (Braun et al. 1995). Login to comment 45 ABCD1 p.Arg401Gln ABCD1 p.Thr105Ile Mutations affecting amino acid residues T105 and R401 have been observed previously in patients with "Addison-only" symptoms (T105I; Feigenbaum et al. 1996) and childhood cerebral ALD or AMN (R401Q; Fuchs et al. 1994; Watkins et al. 1995; Krasemann et al. 1996), respectively, but, in these cases, are associated with different nucleotide substitutions. Login to comment