A8344G-F85

**Figure 1\. Pedigree diagram for family A8344G\-F85\.**

![](/media/202607/A8344G-F85-pedigree_20260701024422697622.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\-F85 | Spain | Multiple symmetric lipomatosis; proximal myopathy; lipid storage myopathy | 9 | 2 | 2000 | [10716764](https://pubmed.ncbi.nlm.nih.gov/10716764/) | AII\-1 is the index case. G includes molecular\-positive asymptomatic maternal relatives plus untested asymptomatic children of confirmed\-positive mothers; AIII\-7/AIII\-8/AIII\-9 are blood\-negative children of a positive father and are excluded from carrier/GH. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F85 from Spain with multiple symmetric lipomatosis; proximal myopathy; lipid storage myopathy. The pedigree record reported 9 unaffected and 2 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 3/12 carriers were affected, and the main clinical manifestation among affected carriers was progressive proximal limb weakness, multiple symmetric lipomatosis of neck and shoulders, rrf, lipid vacuoles, complexes i, iii, and iv deficiency., episodic fatigability.

# 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\-F85 | A8344G\-F85\-II1 | Fam | F | Y | Y | A | 55 | / | 83% | / | / | Progressive proximal limb weakness; multiple symmetric lipomatosis of neck and shoulders; RRF; lipid vacuoles; complexes I, III, and IV deficiency. | Index case; Figure 1 muscle load 83%. |
| 2 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-II2 | Fam | F | N | Y | A | 52 | / | 90% | / | / | Episodic fatigability; neck lipomas; mild deltoid weakness; RRF; lipid storage; COX\-deficient fibers. | Figure 1 muscle load 90%. |
| 3 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-II3 | Fam | M | N | Y | A | 50 | / | 70% | / | / | Diffuse cramps and fatigue; neck and shoulder lipomas; mild proximal weakness; RRF; increased lipid; complex I deficiency. | Figure 1 muscle load 70%. |
| 4 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-II4 | Fam | F | N | N | A | 43 | 67% | / | / | / | Healthy | Figure 1 blood load 67%. |
| 5 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III1 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother AII\-1 has confirmed mutation load and child phenotype is explicitly reported. |
| 6 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III2 | Fam | F | N | N | A | ND | 68% | / | / | / | Healthy | Figure 1 blood load 68%. |
| 7 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III3 | Fam | F | N | N | A | ND | 70% | / | / | / | Healthy | Figure 1 blood load 70%. |
| 8 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III4 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother AII\-1 has confirmed mutation load and child phenotype is explicitly reported. |
| 9 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy | No molecular testing in child; included because mother AII\-2 has confirmed mutation load and child phenotype is explicitly reported. |
| 10 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III6 | Fam | M | N | N | A | ND | 90% | / | / | / | Healthy | Figure 1 blood load 90%. |
| 11 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III10 | Fam | M | N | N | A | ND | 73% | / | / | / | Healthy | Figure 1 blood load 73%. |
| 12 | 8344 | m.8344A\>G | A8344G\-F85 | A8344G\-F85\-III11 | Fam | M | N | N | A | ND | 68% | / | / | / | Healthy | Figure 1 blood load 68%. |

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