T12297C-F4

**Figure 1\. Pedigree diagram for family T12297C\-F4\.**

![](/media/202607/T12297C-F4-pedigree_20260701032214886452.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 | 12297 | m.12297T\>C | T12297C\-F4 | UK | Cardiomyopathy, failure to thrive, lactic acidosis | 1 | 0 | 2011 | [21882289](https://pubmed.ncbi.nlm.nih.gov/21882289/) |  |

The **m.12297T\>C** variant in MT\-TL2 was reported in family T12297C\-F4 from UK with cardiomyopathy, failure to thrive, lactic acidosis. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was cardiomyopathy, failure to thrive, lactic acidosis.

# 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 | 12297 | m.12297T\>C | T12297C\-F4 | T12297C\-F4\-Ⅰ1 | Uninf | F | N | N | A | ND | Homo | / | Homo | / | Healthy |  |
| 2 | 12297 | m.12297T\>C | T12297C\-F4 | T12297C\-F4\-II1 | Fam | M | Y | Y | D | ND | Homo | Homo | Homo | / | Cardiomyopathy, failure to thrive, lactic acidosis |  |

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