T9185C-F13

**Figure 1\. Pedigree diagram for family T9185C\-F13\.**

![](/media/202607/T9185C-F13-pedigree_20260701004929911454.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\-F13 | Lithuania | Leigh syndrome | 1 | 0 | 2018 | [29228836](https://pubmed.ncbi.nlm.nih.gov/29228836/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F13 from Lithuania with leigh syndrome. The pedigree record reported 1 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, motor developmental delay, hypotonia, tremor, poor balance, basal ganglia lesions.

# 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\-F13 | T9185C\-F13\-II1 | Fam | F | Y | Y | A | 3\.5 | Homo | / | / | / | Leigh syndrome; motor developmental delay; hypotonia; tremor; poor balance; basal ganglia lesions |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F13 | T9185C\-F13\-I2 | Uninf | F | N | N | A | 38 | \+ | \+ | \+ | / | Healthy |  |

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