T14709C-F6

**Figure 1\. Pedigree diagram for family T14709C\-F6\.**

![](/media/202606/20260626171653796571.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14709 | m.14709T\>C | T14709C\-F6 | UK | Myopathy, diabetes mellitus | 29 | 14 | 2004 | [15048886](https://pubmed.ncbi.nlm.nih.gov/15048886/) |  |

The **m.14709T\>C** variant in MT\-TE was reported in family T14709C\-F6 from UK with myopathy, diabetes mellitus. The pedigree record reported 29 unaffected and 14 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 6/8 carriers were affected, and the main clinical manifestation among affected carriers was proximal myopathy, oculi weakness, diabetes mellitus, ataxia and dysarthria, peripheral neuropathy, cerebral atrophy, peripheral vascular disease, left hemiparesis.

# 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 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V1 | Fam | M | N | Y | D | 55 | / | 100% | / | 100% (Heart), 100% (Kidney), 100% (Liver), 94% (Spleen), 92% (Lung) | Proximal myopathy, oculi weakness, diabetes mellitus, ataxia and dysarthria, peripheral neuropathy, cerebral atrophy, peripheral vascular disease |  |
| 2 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V2 | Fam | F | N | Y | A | 60 | 90% | / | 92% | 81% (H) | Proximal myopathy, oculi weakness, left hemiparesis, nystagmus and ataxia |  |
| 3 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V4 | Fam | F | N | Y | D | 70 | / | / | / | / | Diabetes mellitus |  |
| 5 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-V5 | Fam | M | Y | Y | D | ND | / | 87% | / | / | Proximal myopathy |  |
| 6 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-VI2 | Fam | F | N | Y | A | 34 | / | / | 93% | 85% (H) | Oculi weakness |  |
| 7 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-VI3 | Fam | F | N | N | A | 32 | 100% | / | / | / | Healthy |  |
| 8 | 14709 | m.14709T\>C | T14709C\-F6 | T14709C\-F6\-VI4 | Fam | F | N | Y | D | 17 | / | 100% | / | / | Proximal myopathy, oculi weakness, diabetes mellitus, diabetic ketoacidosis, breathlessness |  |

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