C1624T-F1

**Figure 1\. Pedigree diagram for family C1624T\-F1\.**

![](/media/202606/20260625174218267717.png)

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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 | 1624 | m.1624C\>T | C1624T\-F1 | UK | Multiple neonatal deaths, Leigh syndrome, severe cardiac failure; mother with occasional migraine headaches and very mild proximal muscle weakness | 0 | 10 | 2002 | [11799391](https://pubmed.ncbi.nlm.nih.gov/11799391/) |  |

The **m.1624C\>T** variant in MT\-TV was reported in family C1624T\-F1 from UK with multiple neonatal deaths, leigh syndrome, severe cardiac failure; mother with occasional migraine headaches and very mild proximal muscle weakness. The pedigree record reported 0 unaffected and 10 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was occasional migraine headaches, very mild proximal muscle weakness (clinically near\-normal), severe cardiac failure, pleural effusions.

# 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 | 1624 | m.1624C\>T | C1624T\-F1 | C1624T\-F1\-II2 | Fam | F | Y | Y | A | 35 | Homo | Homo | / | / | Occasional migraine headaches, very mild proximal muscle weakness (clinically near\-normal) |  |
| 2 | 1624 | m.1624C\>T | C1624T\-F1 | C1624T\-F1\-III7 | Fam | F | N | Y | D | 21 hours | Homo | Homo | / | / | Severe cardiac failure, pleural effusions |  |

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