T11984C-F1

**Figure 1\. Pedigree diagram for family T11984C\-F1\.**

![](/media/202606/20260630174648119911.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11984 | m.11984T\>C | T11984C\-F1 | India | Leigh syndrome | 1 | 1 | 2006 | [17022785](https://pubmed.ncbi.nlm.nih.gov/17022785/) |  |

The **m.11984T\>C** variant in MT\-ND4 was reported in family T11984C\-F1 from India with leigh syndrome. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, basal ganglionic lesions, respiratory failure, multiple seizures, myopathic pattern.

# 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 | 11984 | m.11984T\>C | T11984C\-F1 | T11984C\-F1\-II1 | Fam | F | Y | Y | A | 3 months | Homo | / | / | / | Leigh syndrome; basal ganglionic lesions; respiratory failure; multiple seizures; myopathic pattern | Original carrier identifier: proband (female child) |
| 2 | 11984 | m.11984T\>C | T11984C\-F1 | T11984C\-F1\-I1 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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