T8993G-F36

**Figure 1\. Pedigree diagram for family T8993G\-F36\.**

![](/media/202607/T8993G-F36-pedigree_20260701001059815699.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\>G | T8993G\-F36 | Italian | Incomplete NARP; NARP syndrome | 0 | 1 | 2002 | [11843698](https://pubmed.ncbi.nlm.nih.gov/11843698/) | Secondary biochemical\-clinical paper; clinical descriptions previously reported. |

The **m.8993T\>G** variant in MT\-ATP6 was reported in family T8993G\-F36 from Italian with incomplete narp; narp syndrome. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was incomplete narp syndrome, retinitis pigmentosa, ataxia, periventricular white matter lesions, narp syndrome, mental retardation, peripheral neuropathy, muscle atrophy.

# 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\>G | T8993G\-F36 | T8993G\-F36\-I1 | Uninf | F | Y | Y | A | 32 y onset | 55% | / | / |  | Incomplete NARP syndrome; retinitis pigmentosa, ataxia, periventricular white matter lesions |  |
| 2 | 8993 | m.8993T\>G | T8993G\-F36 | T8993G\-F36\-II1 | Fam | M | N | Y | A | 7 mo onset | 85% | / | / |  | NARP syndrome; mental retardation, ataxia, retinitis pigmentosa, peripheral neuropathy, muscle atrophy |  |

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