A8348G-F1

**Figure 1\. Pedigree diagram for family A8348G\-F1\.**

![](/media/202607/A8348G-F1-pedigree_20260701024538122187.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 | 8348 | m.8348A\>G | A8348G\-F1 | Japan | Cardiomyopathy | 1 | 1 | 2001 | [11446509](https://pubmed.ncbi.nlm.nih.gov/11446509/) | / |

The **m.8348A\>G** variant in MT\-TK was reported in family A8348G\-F1 from Japan with cardiomyopathy. The pedigree record reported 1 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 mild concentric left ventricular hypertrophy, no cardiac symptoms, hypertrophic cardiomyopathy progressing to dilated cardiomyopathy, congestive heart failure, ventricular arrhythmias.

# 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 | 8348 | m.8348A\>G | A8348G\-F1 | A8348G\-F1\-II2 | Fam | M | N | Y | A | ND | Hetero; load NR | / | / | / | Mild concentric left ventricular hypertrophy; no cardiac symptoms | Blood mutant ratio was reported as higher than the proband, but no numeric value was given. |
| 2 | 8348 | m.8348A\>G | A8348G\-F1 | A8348G\-F1\-II1 | Fam | M | Y | Y | A | 46 | Hetero; load NR | / | / | Mutant dominant (Heart tissue) | Hypertrophic cardiomyopathy progressing to dilated cardiomyopathy; congestive heart failure; ventricular arrhythmias | m.8348A\>G detected in blood and heart tissue; no numeric load reported. |

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