A8344G-F48

**Figure 1\. Pedigree diagram for family A8344G\-F48\.**

![](/media/202607/A8344G-F48-pedigree_20260701024239453086.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 | 8344 | m.8344A\>G | A8344G\-F48 | Swedish | MERRF / multiple symmetric lipomas | 0 | 2 | 1993 | [8447321](https://pubmed.ncbi.nlm.nih.gov/8447321/) | No formal pedigree figure. The family relationship is described in the case report. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F48 from Swedish with merrf / multiple symmetric lipomas. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was multiple symmetric lipomas, no neuromuscular disease, merrf syndrome, large confluent lipomas around neck and shoulder.

# 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 | 8344 | m.8344A\>G | A8344G\-F48 | A8344G\-F48\-II1 | Fam | F | Y | Y | A | 37 | 71% | 80% | / | 62%(F); 75%(Adipose tissue); 90%(Lipoma 1\); 94%(Lipoma 2\); 94%(Lipoma 3\); 94%(Cultured lipoma cells) | Multiple symmetric lipomas; no neuromuscular disease | Mother of a MERRF son; no ragged\-red fibers; normal muscle respiratory activity; few (\<1%) COX\-deficient muscle fibers. Evidence: Case report and Table 1: 37\-year\-old woman with A8344G loads in lymphocytes, muscle, fibroblasts, adipose tissue, and lipomas. |
| 2 | 8344 | m.8344A\>G | A8344G\-F48 | A8344G\-F48\-III1 | Fam | M | N | Y | A | 17 | / | / | / | / | MERRF syndrome | The A8344G mutation was first identified in this son; exact tissue load is not reported in this paper.; Evidence: Case report: oldest son had MERRF syndrome and carried the same A8344G mutation. |
| 3 | 8344 | m.8344A\>G | A8344G\-F48 | A8344G\-F48\-I1 | Uninf | F | N | Y | ND | ND | / | / | / | / | Large confluent lipomas around neck and shoulder | The discussion states the patient and her mother are carriers; exact tissue and load are not reported.; Evidence: Family history/discussion: patient's mother had similar lipomas and is described as a carrier. |

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