T13094C-F8

**Figure 1\. Pedigree diagram for family T13094C\-F8\.**

![](/media/202607/T13094C-F8-pedigree_20260701013857634041.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13094 | m.13094T\>C | T13094C\-F8 | international | SCA/MELAS/Leigh\-like spectrum | 0 | 2 | 2018 | [29506874](https://pubmed.ncbi.nlm.nih.gov/29506874/) | P2\.2 had blood 0 and P2\.3 was not sampled, so neither is filled as carrier.; Family 2; Tables 1\-2; International cohort; individual country not consistently stated in main text. |

The **m.13094T\>C** variant in MT\-ND5 was reported in family T13094C\-F8 from international with sca/melas/leigh\-like spectrum. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was sca, melas, onset 12 years., ataxia., leigh\-like, onset 5 years..

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13094 | m.13094T\>C | T13094C\-F8 | T13094C\-F8\-III1 | Fam | F | Y | Y | A | 30 years | 94% | 35% | 0% | / | SCA/MELAS; onset 12 years. | P2 |
| 2 | 13094 | m.13094T\>C | T13094C\-F8 | T13094C\-F8\-II1 | Fam | F | N | Y | A | 49 years | 3% | / | 22% | / | Ataxia. | P2\.1 |
| 3 | 13094 | m.13094T\>C | T13094C\-F8 | T13094C\-F8\-III2 | Fam | M | N | Y | A | 43 years | 29% | / | / | / | Leigh\-like/SCA; onset 5 years. | P2\.4 |

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