T9185C-F4

**Figure 1\. Pedigree diagram for family T9185C\-F4\.**

![](/media/202607/T9185C-F4-pedigree_20260701004708803615.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 | 9185 | m.9185T\>C | T9185C\-F4 | USA | Illness\-induced exacerbation of Leigh syndrome | 2 | 0 | 2010 | [20546952](https://pubmed.ncbi.nlm.nih.gov/20546952/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F4 from USA with illness\-induced exacerbation of leigh syndrome. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, episodic febrile illness\-induced weakness, endurance intolerance, dysarthria, ataxia, ptosis.

# 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 | 9185 | m.9185T\>C | T9185C\-F4 | T9185C\-F4\-IV2 | Fam | M | Y | Y | A | ND | Homo | / | / | / | Leigh syndrome; episodic febrile illness\-induced weakness; endurance intolerance; dysarthria; ataxia; ptosis |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F4 | T9185C\-F4\-III2 | Fam | F | N | N | A | ND | 30% | / | / | / | Healthy |  |

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