T14723C-F1

**Figure 1\. Pedigree diagram for family T14723C\-F1\.**

![](/media/202606/20260626171842197306.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14723 | m.14723T\>C | T14723C\-F1 | UK | Bilateral ptosis, amblyopia, neck pain, limb ache, proximal weakness, facial weakness, ophthalmoplegia, eye deviation | 1 | 0 | 2010 | [20810132](https://pubmed.ncbi.nlm.nih.gov/20810132/) |  |

The **m.14723T\>C** variant in MT\-TE was reported in family T14723C\-F1 from UK with bilateral ptosis, amblyopia, neck pain, limb ache, proximal weakness, facial weakness, ophthalmoplegia, eye deviation. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was bilateral ptosis, amblyopia, neck pain, limb ache, proximal weakness, facial weakness, ophthalmoplegia, eye deviation.

# 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 | 14723 | m.14723T\>C | T14723C\-F1 | T14723C\-F1\-I2 | Uninf | F | Y | Y | A | 63 | 0% | 7%(in 1997\) 34%(in 2008\) | 0% | 0% (BM) | Bilateral ptosis, amblyopia, neck pain, limb ache, proximal weakness, facial weakness, ophthalmoplegia, eye deviation |  |
| 2 | 14723 | m.14723T\>C | T14723C\-F1 | T14723C\-F1\-II1 | Fam | F | N | N | A | 39 | 0% | 0% | 0% | 0% (BM) | Healthy |  |

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