G10197A-F2

**Figure 1\. Pedigree diagram for family G10197A\-F2\.**

![](/media/202606/20260629232321139661.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 | 10197 | m.10197G\>A | G10197A\-F2 | France | Leigh syndrome, dystonia | 1 | 0 | 2007 | [17152068](https://pubmed.ncbi.nlm.nih.gov/17152068/) |  |

The **m.10197G\>A** variant in MT\-ND3 was reported in family G10197A\-F2 from France with leigh syndrome, dystonia. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, dystonia, hypotonia, pyramidal syndrome, psychomotor retardation, strabismus, epilepsy.

# 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 | 10197 | m.10197G\>A | G10197A\-F2 | G10197A\-F2\-Ⅰ1 | Uninf | F | N | N | A | 34 y | 50% | / | / | / | Healthy |  |
| 2 | 10197 | m.10197G\>A | G10197A\-F2 | G10197A\-F2\-Ⅱ1 | Fam | M | Y | Y | A | 5 y | / | 100% | / | 100%(F) | Leigh syndrome/dystonia, hypotonia, pyramidal syndrome, psychomotor retardation, strabismus, epilepsy, dystonia |  |

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