ABCMdb

PMID: 20195870

Guettsches AK, Kuechler A, Gal A, Schmitz W, Tegenthoff M, Vorgerd M
Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathy.
J Neurol. 2010 Aug;257(8):1394-5. Epub 2010 Mar 2., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCD1 p.Arg518Trp In both patients, molecular genetic testing revealed a heterozygous c.1552C[T-transition (p.Arg518Trp) in exon 6 of ABCD1. Login to comment 22 ABCD1 p.Arg518Trp In I.1, II.2, and II.3, genetic analysis of ABCD1 revealed a heterozygote C[T-transition (c.1552C[T) in exon 6 (Table 1), which is expected to result in the replacement of an evolutionary conserved arginine residue by a tryptophane (p.Arg518Trp). Login to comment 23 ABCD1 p.Arg518Trp In I.1, II.2, and II.3, genetic analysis of ABCD1 revealed a heterozygote C[T-transition (c.1552C[T) in exon 6 (Table 1), which is expected to result in the replacement of an evolutionary conserved arginine residue by a tryptophane (p.Arg518Trp). Login to comment