T8993C-F9

**Figure 1\. Pedigree diagram for family T8993C\-F9\.**

![](/media/202606/T8993C-F9-pedigree_20260630235710975705.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 8993 | m.8993T\>C | T8993C\-F9 | Netherlands | Leigh syndrome | 0 | 4 | 1993 | [8395787](https://pubmed.ncbi.nlm.nih.gov/8395787/) |  |

The **m.8993T\>C** variant in MT\-ATP6 was reported in family T8993C\-F9 from Netherlands with leigh syndrome. The pedigree record reported 0 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, weakness, fatigability, sensory disturbances, pyramidal and cerebellar signs, mental retardation, pyramidal, extrapyramidal and cerebellar signs.

# 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 | 8993 | m.8993T\>C | T8993C\-F9 | T8993C\-F9\-I1 | Uninf | F | N | Y | A | 56 y onset | \+ | / | / | / | Leigh syndrome; weakness, fatigability, sensory disturbances; pyramidal and cerebellar signs |  |
| 2 | 8993 | m.8993T\>C | T8993C\-F9 | T8993C\-F9\-II2 | Fam | M | N | Y | A | 3 y onset | \+ | \~homo | / | / | Leigh syndrome; mental retardation; pyramidal, extrapyramidal and cerebellar signs; putamen and cerebellar MRI abnormalities |  |
| 3 | 8993 | m.8993T\>C | T8993C\-F9 | T8993C\-F9\-II3 | Fam | F | N | Y | A | 9 y onset | \+ | / | / | / | Leigh syndrome; mental retardation; eye, pyramidal and cerebellar signs; brainstem MRI abnormalities |  |
| 4 | 8993 | m.8993T\>C | T8993C\-F9 | T8993C\-F9\-II4 | Fam | F | N | Y | A | 4 y onset | \+ | / | / | / | Leigh syndrome; mental retardation; eye, pyramidal, extrapyramidal and cerebellar signs; cerebellar MRI abnormalities |  |
| 5 | 8993 | m.8993T\>C | T8993C\-F9 | T8993C\-F9\-II1 | Fam | M | N | Y | D | 6 y onset; died 17 y | / | / | / | / | Leigh syndrome; mental retardation; eye signs; pyramidal, extrapyramidal and cerebellar signs |  |

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