G11778A-F352

**Figure 1\. Pedigree diagram for family G11778A\-F352\.**

![](/media/202606/20260630170432343186.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 | 11778 | m.11778G\>A | G11778A\-F352 | Italy | LHON; myoclonus; migraine; psychiatric features | 0 | 9 | 2008 | [18216301](https://pubmed.ncbi.nlm.nih.gov/18216301/) | Paper family 1 |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F352 from Italy with lhon; myoclonus; migraine; psychiatric features. The pedigree record reported 0 unaffected and 9 affected maternal relatives, and the carrier table includes 10 listed carriers. Homoplasmy was reported in all listed carriers; 10/10 carriers were affected, and the main clinical manifestation among affected carriers was lhon, migraine without aura, myoclonus, migraine, psychiatric features, muscle cramps, basal ganglia calcifications.

# 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 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-IV1 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura |  |
| 2 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V1 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura |  |
| 3 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura |  |
| 4 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V3 | Fam | F | Y | Y | A | 45 | Homo | Homo | / | / | LHON; myoclonus; migraine; psychiatric features; muscle cramps |  |
| 5 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V4 | Fam | F | N | Y | A | ND | Homo | Homo | / | / | LHON; migraine without aura; myoclonus |  |
| 6 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-V5 | Fam | F | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura |  |
| 7 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI1 | Fam | M | N | Y | A | ND | Homo | Homo | / | / | LHON; migraine without aura; myoclonus; basal ganglia calcifications |  |
| 8 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI2 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura |  |
| 9 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI3 | Fam | M | N | Y | A | ND | Homo | Homo | / | / | LHON; migraine without aura; myoclonus |  |
| 10 | 11778 | m.11778G\>A | G11778A\-F352 | G11778A\-F352\-VI4 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON; migraine without aura |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).