C602T-F1

**Figure 1\. Pedigree diagram for family C602T\-F1\.**

![](/media/202606/20260626174435208252.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 602 | m.602C\>T | C602T\-F1 | Japan | Late\-onset predominant axial myopathy and encephalopathy | 14 | 7 | 2011 | [21424749](https://pubmed.ncbi.nlm.nih.gov/21424749/) |  |

The **m.602C\>T** variant in MT\-TF was reported in family C602T\-F1 from Japan with late\-onset predominant axial myopathy and encephalopathy. The pedigree record reported 14 unaffected and 7 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 8/8 carriers were affected, and the main clinical manifestation among affected carriers was bent spine, paraspinal muscle atrophy and cerebellar ataxia, atrophy of the paraspinal muscles, late\-onset paraspinal muscle atrophy and generalized seizures with encephalopathy, ck levels elevated, seizure, hashimoto thyroiditis.

# 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 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-II3 | Fam | F | N | Y | D | ND | / | / | / | / | Bent spine |  |
| 2 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-II4 | Fam | F | N | Y | D | ND | / | / | / | / | Bent spine |  |
| 3 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-III8 | Fam | F | Y | Y | A | 73 | 0% | 64\.7% | / | / | Paraspinal muscle atrophy and cerebellar ataxia, atrophy of the paraspinal muscles |  |
| 4 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-III5 | Fam | F | N | Y | D | 84 | / | / | / | / | Late\-onset paraspinal muscle atrophy and generalized seizures with encephalopathy, atrophy of the paraspinal muscles |  |
| 5 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV2 | Fam | M | N | Y | A | ND | / | / | / | / | CK levels elevated |  |
| 6 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV3 | Fam | M | N | Y | A | ND | / | / | / | / | CK levels elevated |  |
| 7 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV4 | Fam | M | N | Y | A | ND | / | / | / | / | CK levels elevated, seizure |  |
| 8 | 602 | m.602C\>T | C602T\-F1 | C602T\-F1\-IV5 | Fam | M | N | Y | A | ND | / | / | / | / | Hashimoto thyroiditis, CK levels elevated |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).