G11778A-F90

**Figure 1\. Pedigree diagram for family G11778A\-F90\.**

![](/media/202606/20260630162943540310.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\-F90 | Denmark | LHON; MS\-like disorder | ND | ND | 1995 | [7639060](https://pubmed.ncbi.nlm.nih.gov/7639060/) | Pedigree: LHON\-Family K |

The **m.11778G\>A** variant in MT\-ND4 was reported in family G11778A\-F90 from Denmark with lhon; ms\-like disorder. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was lhon with ms\-like disorder, bilateral visual loss, central scotomas, motor and sensory 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 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II1 | Fam | M | Y | Y | A | 44 | Homo | / | / | / | LHON with MS\-like disorder; bilateral visual loss; central scotomas; motor and sensory symptoms | Original carrier identifier: VIII\-8, proband marked with arrow in Fig |
| 2 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II2 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Maternal relative; clinical status not individually mapped | Original carrier identifier: Fig |
| 3 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II3 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Maternal relative; clinical status not individually mapped | Original carrier identifier: Fig |
| 4 | 11778 | m.11778G\>A | G11778A\-F90 | G11778A\-F90\-II4 | Fam | ND | N | ND | ND | ND | Homo | / | / | / | Maternal relative; clinical status not individually mapped | Original carrier identifier: Fig |

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