G13135A-F2

**Figure 1\. Pedigree diagram for family G13135A\-F2\.**

![](/media/202607/G13135A-F2-pedigree_20260701013242248733.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\-F2 | China | Hypertrophic cardiomyopathy | 1 | 3 | 2009 | [19473338](https://pubmed.ncbi.nlm.nih.gov/19473338/) | Family B |

The **m.13135G\>A** variant in MT\-ND5 was reported in family G13135A\-F2 from China with hypertrophic cardiomyopathy. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was hcm, mitral regurgitation, pulmonary arterial hypertension, atrial fibrillation, hypertension, condition, outcome reported as normal.

# 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\-F2 | G13135A\-F2\-I1 | Uninf | F | N | Y | A | 74 | \+ | / | / | / | HCM; mitral regurgitation; pulmonary arterial hypertension; atrial fibrillation |  |
| 2 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-II4 | Fam | M | N | Y | A | 49 | \+ | / | / | / | HCM; mitral regurgitation; hypertension |  |
| 3 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-II9 | Fam | F | N | Y | A | 40 | \+ | / | / | / | HCM; mitral regurgitation |  |
| 4 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-III8 | Fam | F | N | Y | A | 18 | \+ | / | / | / | HCM; condition/outcome reported as normal |  |
| 5 | 13135 | m.13135G\>A | G13135A\-F2 | G13135A\-F2\-III4 | Fam | F | N | N | ND | ND | \+ | / | / | / | Healthy |  |

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