G13135A-F3

**Figure 1\. Pedigree diagram for family G13135A\-F3\.**

![](/media/202607/G13135A-F3-pedigree_20260701013258280403.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 | 13135 | m.13135G\>A | G13135A\-F3 | China | Hypertrophic cardiomyopathy | 2 | 4 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) | Family C |

The **m.13135G\>A** variant in MT\-ND5 was reported in family G13135A\-F3 from China with hypertrophic cardiomyopathy. The pedigree record reported 2 unaffected and 4 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 5/7 carriers were affected, and the main clinical manifestation among affected carriers was hcm, hypertension, mitral, tricuspid regurgitation, pulmonary arterial hypertension, atrial fibrillation, mitral regurgitation, condition.

# 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 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-II7 | Fam | M | N | Y | A | 62 | \+ | / | / | / | HCM; hypertension |  |
| 2 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-II10 | Fam | F | N | Y | A | 55 | \+ | / | / | / | HCM; mitral/tricuspid regurgitation; pulmonary arterial hypertension; atrial fibrillation |  |
| 3 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-III11 | Fam | F | N | Y | A | 46 | \+ | / | / | / | HCM; mitral regurgitation; hypertension |  |
| 4 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-IV10 | Fam | F | N | Y | A | 24 | \+ | / | / | / | HCM; condition/outcome reported as normal |  |
| 5 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-IV14 | Fam | F | N | Y | A | 14 | \+ | / | / | / | HCM; condition/outcome reported as normal |  |
| 6 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-III3 | Fam | M | N | N | ND | ND | \+ | / | / | / | Healthy |  |
| 7 | 13135 | m.13135G\>A | G13135A\-F3 | G13135A\-F3\-IV12 | Fam | M | N | N | ND | ND | \+ | / | / | / | Healthy |  |

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