G13513A-F13

**Figure 1\. Pedigree diagram for family G13513A\-F13\.**

![](/media/202607/G13513A-F13-pedigree_20260701013416708772.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 13513 | m.13513G\>A | G13513A\-F13 | Australia | Adult Leigh disease | 1 | 0 | 2003 | [14520659](https://pubmed.ncbi.nlm.nih.gov/14520659/) | Patient 3 |

The **m.13513G\>A** variant in MT\-ND5 was reported in family G13513A\-F13 from Australia with adult leigh disease. 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 childhood learning difficulty, bilateral visual loss, progressive deafness, tremor, ataxia, optic atrophy, hypertrophic cardiomyopathy.

# 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 | 13513 | m.13513G\>A | G13513A\-F13 | G13513A\-F13\-II6 | Fam | M | Y | Y | A | 35 y at investigation | 7% | 26% | / | 6%(Transformed lymphoblasts) | Childhood learning difficulty, bilateral visual loss, progressive deafness, tremor, ataxia, optic atrophy, hypertrophic cardiomyopathy | Coenzyme Q10 150 mg/day |
| 2 | 13513 | m.13513G\>A | G13513A\-F13 | G13513A\-F13\-I2 | Fam | F | N | N | A | 56 years | 2% | / | / | 2%(Transformed lymphoblasts) | Healthy |  |

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