T9185C-F11

**Figure 1\. Pedigree diagram for family T9185C\-F11\.**

![](/media/202607/T9185C-F11-pedigree_20260701004909547852.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\-F11 | Poland | Late\-onset Leigh syndrome; hyperventilation | 2 | 1 | 2018 | [29116603](https://pubmed.ncbi.nlm.nih.gov/29116603/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F11 from Poland with late\-onset leigh syndrome; hyperventilation. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was late\-onset leigh syndrome, infection\-related respiratory problems, wheelchair dependence after recovery, early speech delay, acute imbalance, ataxia\-like symptoms.

# 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\-F11 | T9185C\-F11\-F1\-II1 | Fam | F | Y | Y | A | 33 | / | / | / | / | Late\-onset Leigh syndrome; infection\-related respiratory problems; wheelchair dependence after recovery |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F11 | T9185C\-F11\-F1\-III1 | Fam | F | N | Y | A | 5 | / | / | / | / | early speech delay; acute imbalance/ataxia\-like symptoms | daughter of II1 |
| 3 | 9185 | m.9185T\>C | T9185C\-F11 | T9185C\-F11\-F1\-I2 | Fam | F | N | N | A | 61 | 45% | / | 55% | / | Healthy |  |
| 4 | 9185 | m.9185T\>C | T9185C\-F11 | T9185C\-F11\-F1\-II2 | Fam | F | N | N | A | 32 | 15% | / | / | / | Healthy |  |

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