T8528C-F4

**Figure 1\. Pedigree diagram for family T8528C\-F4\.**

![](/media/202606/20260630141054459766.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\-F4 | United States | Infantile hypertrophic cardiomyopathy | 0 | 1 | 2009 | [19188198](https://pubmed.ncbi.nlm.nih.gov/19188198/) |  |

The **m.8528T\>C** variant in MT\-ATP8/6 was reported in family T8528C\-F4 from United States with infantile hypertrophic cardiomyopathy. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was infantile hypertrophic cardiomyopathy, pulmonary hypertension, thrombocytopenia, hypotonia, lactic acidosis, respiratory failure.

# 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\-F4 | T8528C\-F4\-II2 | Uninf | F | Y | Y | A | prenatal | Homo | Homo | / | / | Infantile hypertrophic cardiomyopathy; pulmonary hypertension; thrombocytopenia; hypotonia |  |
| 2 | 8528 | m.8528T\>C | T8528C\-F4 | T8528C\-F4\-II1 | Fam | F | N | Y | D | 1mo | \+ | \+ | / | / | Infantile hypertrophic cardiomyopathy; lactic acidosis; respiratory failure |  |

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