T7587C-F1

**Figure 1\. Pedigree diagram for family T7587C\-F1\.**

![](/media/202606/fc51ae42b1af4ce3b75cd9926997eccc5065.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7587 | m.7587T\>C | T7587C\-F1 | United Kingdom | Mitochondrial encephalomyopathy; COX deficiency | 1 | 1 | 1999 | [10205264](https://pubmed.ncbi.nlm.nih.gov/10205264/) |  |

The **m.7587T\>C** variant in MT\-CO2 was reported in family T7587C\-F1 from United Kingdom with mitochondrial encephalomyopathy; cox deficiency. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was fatigue, gait unsteadiness, mitochondrial encephalomyopathy, cox deficiency, ragged\-red fibers, severe mitochondrial encephalomyopathy, gait ataxia from age 5, wheelchair by 25\.

# 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 | 7587 | m.7587T\>C | T7587C\-F1 | T7587C\-F1\-I1 | Uninf | F | Y | Y | A | 57 | 0% | 67% | / | 52%(F); 0%(cultured myoblasts) | Fatigue; gait unsteadiness; mitochondrial encephalomyopathy; COX deficiency; ragged\-red fibers |  |
| 2 | 7587 | m.7587T\>C | T7587C\-F1 | T7587C\-F1\-II2 | Fam | M | N | Y | A | 34 | 36% | 91% | / | 89%(F); cultured fibroblasts became homoplasmic | Severe mitochondrial encephalomyopathy; gait ataxia from age 5; wheelchair by 25; cognitive impairment; bilateral optic atrophy; pigmentary retinopathy; mild distal muscle wasting |  |
| 3 | 7587 | m.7587T\>C | T7587C\-F1 | T7587C\-F1\-II1 | Fam | M | N | N | A | 30 | / | / | / | / | Asymptomatic; clinically unaffected at age 30 |  |

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