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. Author manuscript; available in PMC: 2016 Aug 1.
Published in final edited form as: J Mol Genet Med. 2016 Jun 19;10(2):222. doi: 10.4172/1747-0862.1000222

Table 2.

Clinical and genotypic data of the patients- 35 patients were screened for the mutation and 3 were died prior to the genetic confirmation. (AMN: Adrenomyeloneuropathy; ccALD: Childhood cerebral ALD).

No Pedigree Code Age Sex Genotype Phenotype Others
1 III-2 - Female Carriers - -
2 III-3 88 Female Carriers Asymptomatic -
3 III-10 73 Female Carriers Asymptomatic -
4 IV-3 - Female Carriers - -
5 IV-11 57 Female Carriers Asymptomatic -
6 IV-13 60 Female Carriers Asymptomatic -
7 IV-16 55 Female Carriers AMN -
8 IV-18 43 Female Carriers AMN -
9 IV-21 54 Female Carriers AMN -
10 IV-26 36 Female Carriers Asymptomatic -
11 V-4 7 Female Carriers Asymptomatic -
12 V-11 28 Female Carriers Asymptomatic -
13 V-14 29 Female Carriers Asymptomatic Β-Thalassemia minor
14 V-30 5 Female Carriers Asymptomatic -
15 VI-1 10 Female Carriers Asymptomatic -
16 VI-4 16 Female Carriers Asymptomatic Β-Thalassemia minor
17 V-23 32 Female Affected Asymptomatic -
18 V-26 21 Female Affected Asymptomatic -
19 V-28 Dead by 11 yr; Female Affected ccALD Dead before screening
20 V-29 22 Female Affected AMN -
21 IV-1 Dead by 15 yr; Male Affected ccALD Dead before screening
22 IV-9 41 Male Affected AMN -
23 IV-15 15 Male Affected AD -
24 IV-19 57 Male Affected AMN Primary diagnosis and treatment of MS
25 IV-27 36 Male Affected Asymptomatic -
26 V-3 26 Male Affected - -
27 V-6 Dead by 26 yr; Male Affected AMN Dead before screening
28 V-7 45 Male Affected Asymptomatic -
29 V-13 23 Male Affected AMN -
30 V-25 24 Male Affected Asymptomatic -
31 V-27 21 Male Affected Asymptomatic -
32 V-33 27 Male Affected Asymptomatic -
33 V-36 24 Male Affected Asymptomatic -
34 V-43 8 Male Affected ccALD Treated with stem cells but dead by 11 yr
35 V-44 7 Male Affected Asymptomatic -
36 IV-22 45 Male Genetically unaffected AMN -
37 V-19 21 Female Genetically unaffected Asymptomatic Β-Thalassemia minor
38 V-20 34 Female Genetically unaffected Asymptomatic Β-Thalassemia minor