HiSeqX Repeat Expansion Cohort - Illumina/Polaris GitHub Wiki
120 samples obtained from Coriell with orthogonally validated pathogenic mutations for the following diseases:
| Disease | Gene | Abbreviation | # samples |
|---|---|---|---|
| Fragile X syndrome | FMR1 | FXS | 57 |
| Friedreich's ataxia 1 | FXN | FRDA | 25 |
| Myotonic dystrophy 1 | DMPK | DM1 | 17 |
| Huntington's disease | HTT | HD | 14 |
| Spinocerebellar ataxia 1 | ATXN | SCA1 | 3 |
| Dentatorubral-pallidoluysian atrophy | ATN1 | DRPLA | 2 |
| Machado-Joseph disease / Spinocerebellar ataxia 3 | ATXN3 | MJD / SCA3 | 1 |
| Kennedy disease / X-linked spinal and bulbar muscular atrophy | AR | KD / SBMA | 1 |
| MTHFR | 1* |
Approval to access these samples is subject to approval from the Data Access Committee.
| Sample ID | Family ID | Sex | Population | Superpopulation | Repository | Link | OMIM | Description | Affected | References |
|---|---|---|---|---|---|---|---|---|---|---|
| NA06968 | 987 | F | AJ | EUR | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 4 |
| NA15848 | 1842 | M | CAJUN | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA23378 | NA | M | FRENCH/IRISH | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| NA23709 | NA | M | GERMAN | NA | NIGMS | Coriell | KD / SBMA | SPINAL AND BULBAR MUSCULAR ATROPHY- X-LINKED 1; SMAX1 | NA | NA |
| NA23374 | NA | F | IRISH | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| CD00014 | NA | M | NA | NA | Centers | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| CD00022 | NA | F | NA | NA | Centers | Coriell | HD | HUNTINGTON DISEASE; HD | NA | 2 |
| NA03132 | NA | M | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | 3 |
| NA03200 | NA | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 6;8 |
| NA03696 | 527 | F | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | 3 |
| NA03697 | 590 | M | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | 3 |
| NA03756 | 488 | M | NA | NA | NIGMS | Coriell | DM1;DMPK;MTHFR | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK;5-10-@METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR | NA | 3 |
| NA03759 | 527 | M | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | NA |
| NA03816 | 594 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA03986 | 488 | M | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | 3 |
| NA03989 | 488 | M | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | NA |
| NA03990 | 488 | F | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | 3 |
| NA04025 | 588 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 6;8 |
| NA04034 | 590 | M | NA | NA | NIGMS | Coriell | DM1;DMPK | DYSTROPHIA MYOTONICA 1; DM1;DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK | NA | 3 |
| NA04079 | 594 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | 1;7 |
| NA04567 | 584 | F | NA | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| NA04648 | 752 | M | NA | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| NA04926 | 780 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA05131 | 819 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA05152 | 2531 | M | NA | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| NA05164 | 584 | F | NA | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| NA05185 | 819 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06075 | 583 | M | NA | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| NA06852 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06889 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06890 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06891 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 1;9 |
| NA06892 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA06893 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06894 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06895 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;APPARENTLY HEALTHY NON-FETAL TISSUE;FMR1 GENE; FMR1 | NA | 1 |
| NA06896 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06897 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 6;8 |
| NA06903 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06904 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06905 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06906 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 4;9 |
| NA06907 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA06910 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 4 |
| NA06926 | 972 | M | NA | NA | NIGMS | Coriell | SCA1;ATXN1 | SPINOCEREBELLAR ATAXIA 1; SCA1;ATAXIN 1; ATX1 | NA | NA |
| NA07063 | 970 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07174 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA07175 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07294 | 1011 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 6;8 |
| NA07536 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07537 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07538 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA07539 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07540 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07541 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 4 |
| NA07542 | 971 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07543 | 971 | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07730 | 3249 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA07862 | 1082 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1;MONOZYGOTIC TWIN PAIRS | NA | NA |
| NA09145 | 970 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 1 |
| NA09237 | 970 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA09316 | 1050 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA09317 | 1050 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 6 |
| NA09497 | 2159 | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | NA |
| NA13503 | NA | F | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13504 | NA | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13505 | NA | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13506 | NA | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13507 | NA | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13508 | NA | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13509 | 2706 | F | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13510 | NA | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13511 | NA | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13512 | NA | F | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13513 | NA | F | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13514 | NA | F | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13515 | 2707 | M | NA | NA | NIGMS | Coriell | HD | HUNTINGTON DISEASE; HD | NA | NA |
| NA13536 | 1617 | F | NA | NA | NIGMS | Coriell | SCA1;ATXN1 | SPINOCEREBELLAR ATAXIA 1; SCA1;ATAXIN 1; ATX1 | NA | 5 |
| NA13537 | 1617 | M | NA | NA | NIGMS | Coriell | SCA1;ATXN1 | SPINOCEREBELLAR ATAXIA 1; SCA1;ATAXIN 1; ATX1 | NA | 5 |
| NA13716 | 1635 | M | NA | NA | NIGMS | Coriell | DRPLA;ATN1 | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA;DRPLA GENE; DRPLA | NA | NA |
| NA13717 | 1635 | M | NA | NA | NIGMS | Coriell | DRPLA;ATN1 | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA;DRPLA GENE; DRPLA | NA | NA |
| NA14519 | 1739 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA15847 | 1842 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA15850 | 1842 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | 1;7 |
| NA16197 | 1912 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16200 | 1912 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16202 | 1914 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16203 | 1914 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16205 | 1915 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16207 | NA | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | 1 |
| NA16209 | 1916 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | 1;7 |
| NA16212 | 1917 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16213 | 1918 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16214 | 1919 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16215 | 1919 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16216 | 1918 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16227 | 1922 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16228 | 1922 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16229 | 1922 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16237 | 1923 | F | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16240 | 1924 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | NA |
| NA16243 | 1923 | M | NA | NA | NIGMS | Coriell | FRDA;FXN | FRIEDREICH ATAXIA 1; FRDA;FRATAXIN; FXN | NA | 1 |
| NA20230 | NA | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20231 | NA | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20232 | NA | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20233 | NA | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20234 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20235 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20236 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20237 | NA | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20238 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20239 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20240 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20241 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20242 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20243 | NA | F | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA20244 | NA | M | NA | NA | NIGMS | Coriell | FXS;FMR1 | FRAGILE X MENTAL RETARDATION SYNDROME;FMR1 GENE; FMR1 | NA | 9 |
| NA23300 | NA | M | NA | NA | NIGMS | Coriell | DM1 | DYSTROPHIA MYOTONICA 1; DM1 | NA | 3 |
| NA06151 | 936 | M | PORTUGUESE | NA | NIGMS | Coriell | MJD / SCA3;ATXN3 | MACHADO-JOSEPH DISEASE; MJD;ATAXIN 3; ATXN3 | NA | NA |
* The sample with the MTHFR mutation (NA03756) is also affected with DM1
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