G10197A-F15

**Figure 1\. Pedigree diagram for family G10197A\-F15\.**

![](/media/202606/20260629232512972787.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\-F15 | China | Adult\-onset LS/LDYT overlap, gait abnormality, upper limb stiffness, visual disturbance, dysarthria, spasms, hypermyotonia/reflexia, cervical cord/brain lesions, poor visual acuity | 0 | 1 | 2025 | [39923090](https://pubmed.ncbi.nlm.nih.gov/39923090/) |  |

The **m.10197G\>A** variant in MT\-ND3 was reported in family G10197A\-F15 from China with adult\-onset ls/ldyt overlap, gait abnormality, upper limb stiffness, visual disturbance, dysarthria, spasms, hypermyotonia/reflexia, cervical cord/brain lesions, poor visual acuity. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was vision disturbance, epilepsy, abnormal gait by history, adult\-onset ls, ldyt overlap, gait abnormality, upper limb stiffness, visual disturbance.

# 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\-F15 | G10197A\-F15\-Ⅰ1 | Uninf | F | N | Y | A | ND | 16\.98% | / | / | / | Vision disturbance, epilepsy, abnormal gait by history |  |
| 2 | 10197 | m.10197G\>A | G10197A\-F15 | G10197A\-F15\-Ⅱ1 | Fam | M | Y | Y | A | Early 20s | 58\.12% | 77\.1% | / | / | Adult\-onset LS/LDYT overlap, gait abnormality, upper limb stiffness, visual disturbance, dysarthria, spasms, hypermyotonia, poor visual acuity |  |

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