A15992T-F6

**Figure 1\. Pedigree diagram for family A15992T\-F6\.**

![](/media/202606/20260629234202895611.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15992 | m.15992A\>T | A15992T\-F6 | Italy | Severe early\-onset muscle fatigue, masseter swelling | 1 | 5 | 2023 | [38030461](https://pubmed.ncbi.nlm.nih.gov/38030461/) |  |

The **m.15992A\>T** variant in MT\-TP was reported in family A15992T\-F6 from Italy with severe early\-onset muscle fatigue, masseter swelling. The pedigree record reported 1 unaffected and 5 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was masseter swelling, exercise\-induced fatigability, lower limb muscle hypotrophy, muscular fatigue.

# 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 | 15992 | m.15992A\>T | A15992T\-F6 | A15992T\-F6\-III2 | Uninf | F | N | Y | A | ND | Homo | / | Homo | / | Masseter swelling |  |
| 2 | 15992 | m.15992A\>T | A15992T\-F6 | A15992T\-F6\-IV1 | Fam | M | Y | Y | A | 16 | Homo | Homo | Homo | Homo (F) | Exercise\-induced fatigability, lower limb muscle hypotrophy, masseter swelling |  |
| 3 | 15992 | m.15992A\>T | A15992T\-F6 | A15992T\-F6\-IV2 | Fam | M | N | Y | A | 10 | Homo | / | Homo | / | Muscular fatigue, masseter swelling |  |

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