Mitochondrial DNA depletion syndrome 12B
| Disorder | |
|---|---|
| OMIM #: | #615418 (Click to access OMIM database) |
| Disorder: | Mitochondrial DNA depletion syndrome 12B |
| Also known as: | MTDPS12B |
| Clinical | |
| Phenotype: | Slowly progressive hypertrophic cardiomyopathy; generalized skeletal myopathy; exercise intolerance |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | SLC25A4 (ANT1) |
| Base Change: | c.523delC |
| Amino Acid Change: | p.Gln175ArgfsX38 |
| Last updated: | 2024-09-24 |
| References |
|---|
| Strauss KA, DuBiner L, Simon M, Zaragoza M, Sengupta PP, Li P, Narula N, Dreike S, Platt J, Procaccio V, Ortiz-González XR, Puffenberger EG, Kelley RI, Morton DH, Narula J, Wallace DC. (2013) Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci USA Feb 26;110(9):3453-8. PubMed ID: 23401503 |
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