T9176C-F3

**Figure 1\. Pedigree diagram for family T9176C\-F3\.**

![](/media/202607/T9176C-F3-pedigree_20260701004328529264.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 | 9176 | m.9176T\>C | T9176C\-F3 | China | Mitochondrial ataxia | 0 | 1 | 2018 | [29756269](https://pubmed.ncbi.nlm.nih.gov/29756269/) |  |

The **m.9176T\>C** variant in MT\-ATP6 was reported in family T9176C\-F3 from China with mitochondrial ataxia. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was cerebellar ataxia, nystagmus, muscle weakness, tendon areflexia, babinski sign, gait imbalance.

# 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 | 9176 | m.9176T\>C | T9176C\-F3 | T9176C\-F3\-II1 | Fam | M | Y | Y | A | 35 | Homo | / | / | / | Cerebellar ataxia; nystagmus; muscle weakness; tendon areflexia; Babinski sign |  |
| 2 | 9176 | m.9176T\>C | T9176C\-F3 | T9176C\-F3\-I2 | Uninf | F | N | Y | A | ND | / | / | / | / | Gait imbalance/cerebellar ataxia |  |

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