PMID: 24154795

Bargiela D, Eglon G, Horvath R, Chinnery PF
An under-recognised cause of spastic paraparesis in middle-aged women.
Pract Neurol. 2014 Jun;14(3):182-4. doi: 10.1136/practneurol-2013-000662. Epub 2013 Oct 23., [PubMed]
Sentences
No. Mutations Sentence Comment
18 ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 24154795:18:63
status: NEW
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 Subsequent DNA sequencing indicated a heterozygous c1679C>T (p.Pro560Leu) mutation in exon 7 of the ABCD1 gene. Login to comment 32 ABCD1 p.Arg591Trp
X
ABCD1 p.Arg591Trp 24154795:32:62
status: NEW
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 Molecular genetic analysis showed a heterozygous c.1771C>T (p.Arg591Trp) mutation in the ABCD1 gene. Login to comment 45 ABCD1 p.Gly248Arg
X
ABCD1 p.Gly248Arg 24154795:45:55
status: NEW
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 Genetic testing identified a heterozygous c.742G>C (p. Gly248Arg) mutation in exon 1 of the ABCD1 gene. Login to comment 50 ABCD1 p.Thr254Met
X
ABCD1 p.Thr254Met 24154795:50:50
status: NEW
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 Genetic testing showed a heterozygous c.761C>T (p.Thr254Met) mutation of the ABCD1 gene. Login to comment