T8528C-F5

**Figure 1\. Pedigree diagram for family T8528C\-F5\.**

![](/media/202606/20260630141108714138.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8528 | m.8528T\>C | T8528C\-F5 | Japan | Rapidly progressive infantile cardiomyopathy | 1 | 0 | 2016 | [26803244](https://pubmed.ncbi.nlm.nih.gov/26803244/) |  |

The **m.8528T\>C** variant in MT\-ATP8/6 was reported in family T8528C\-F5 from Japan with rapidly progressive infantile cardiomyopathy. 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 rapidly progressive infantile cardiomyopathy, biventricular hypertrophy, metabolic acidosis, hyperammonemia, hyperlactacidemia.

# 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 | 8528 | m.8528T\>C | T8528C\-F5 | T8528C\-F5\-II1 | Fam | F | Y | Y | D | 5\.5mo | 88% | / | / | 90%(Heart); 86%(F) | Rapidly progressive infantile cardiomyopathy; biventricular hypertrophy; metabolic acidosis; hyperammonemia; hyperlactacidemia |  |
| 2 | 8528 | m.8528T\>C | T8528C\-F5 | T8528C\-F5\-I2 | Uninf | F | N | N | A | ND | / | / | / | 1\.4%(F) | Healthy |  |

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