T9032C-F1

**Figure 1\. Pedigree diagram for family T9032C\-F1\.**

![](/media/202607/T9032C-F1-pedigree_20260701004044882308.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 | 9032 | m.9032T\>C | T9032C\-F1 | Spain | Mitochondrial disease; ataxia/retinopathy | 0 | 1 | 2014 | [24986921](https://pubmed.ncbi.nlm.nih.gov/24986921/) |  |

The **m.9032T\>C** variant in MT\-ATP6 was reported in family T9032C\-F1 from Spain with mitochondrial disease; ataxia/retinopathy. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was mitochondrial disease, pigmentary retinopathy, mild ataxic gait, sensory neuropathy, hearing loss, progressive unstable gait and bilateral sensorineural hearing loss.

# 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 | 9032 | m.9032T\>C | T9032C\-F1 | T9032C\-F1\-II1 | Fam | M | Y | Y | A | 16 | 70% | / | 96% | 93%(H) | Mitochondrial disease; pigmentary retinopathy; mild ataxic gait; sensory neuropathy; hearing loss |  |
| 2 | 9032 | m.9032T\>C | T9032C\-F1 | T9032C\-F1\-I2 | Uninf | F | N | Y | A | ND | 42% | / | 57% | 73%(H) | Progressive unstable gait and bilateral sensorineural hearing loss |  |

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