T618C-F1

**Figure 1\. Pedigree diagram for family T618C\-F1\.**

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 618 | m.618T\>C | T618C\-F1 | Sweden | Mitochondrial myopathy | 1 | 2 | 1998 | [9636664](https://pubmed.ncbi.nlm.nih.gov/9636664/) |  |

The **m.618T\>C** variant in MT\-TF was reported in family T618C\-F1 from Sweden with mitochondrial myopathy. The pedigree record reported 1 unaffected and 2 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 3/4 carriers were affected, and the main clinical manifestation among affected carriers was asthenic with general muscle weakness, general muscle weakness and pain, ragged red fibers, and respiratory chain deficiencies in skeletal muscle.

# 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 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-I2 | Uninf | F | N | Y | D | 21 | ND | ND | ND | ND | asthenic with general muscle weakness |  |
| 2 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-II1 | Uninf | F | N | N | A | / | 0% | ND | ND | ND | / |  |
| 3 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-II2 | Uninf | M | Y | Y | A | 36 | 20% | 95% | ND | ND | general muscle weakness and pain, ragged red fibers, and respiratory chain deficiencies in skeletal muscle |  |
| 4 | 618 | m.618T\>C | T618C\-F1 | T618C\-F1\-II3 | Uninf | ND | N | Y | D | 8 months | ND | ND | ND | ND | / |  |

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