T9088C-F1

**Figure 1\. Pedigree diagram for family T9088C\-F1\.**

![](/media/202607/T9088C-F1-pedigree_20260701004159903918.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 | 9088 | m.9088T\>C | T9088C\-F1 | USA | Dysautonomia/myalgia phenotype | 0 | 1 | 2019 | [30763462](https://pubmed.ncbi.nlm.nih.gov/30763462/) |  |

The **m.9088T\>C** variant in MT\-ATP6 was reported in family T9088C\-F1 from USA with dysautonomia/myalgia phenotype. 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 unilateral facial weakness, postural orthostatic tachycardia, myalgias, heat intolerance, fatigue, migraines, depression, hypotension.

# 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 | 9088 | m.9088T\>C | T9088C\-F1 | T9088C\-F1\-II1 | Fam | ND | Y | Y | A | 15 | 66% | / | / | 52%(skin) | Unilateral facial weakness; postural orthostatic tachycardia; myalgias; heat intolerance; fatigue; migraines |  |
| 2 | 9088 | m.9088T\>C | T9088C\-F1 | T9088C\-F1\-I2 | Uninf | F | N | Y | A | 37 | 33% | / | / | / | Depression; hypotension; fatigue; myalgias; irritable bowel; frequent choking |  |

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