A8344G-F86

**Figure 1\. Pedigree diagram for family A8344G\-F86\.**

![](/media/202607/A8344G-F86-pedigree_20260701024431963911.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\-F86 | Spain | Multiple symmetric lipomatosis; proximal myopathy; lipid storage myopathy | 2 | 0 | 2000 | [10716764](https://pubmed.ncbi.nlm.nih.gov/10716764/) | BII\-1 is the index case; BIII\-1 and BIII\-2 are asymptomatic A8344G\-positive children. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F86 from Spain with multiple symmetric lipomatosis; proximal myopathy; lipid storage myopathy. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was progressive limb\-girdle weakness, multiple lipomas of neck, back, suprascapular region, rrf, lipid vacuoles, cox\-deficient fibers, complex iii deficiency..

# 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\-F86 | A8344G\-F86\-II1 | Fam | F | Y | Y | A | 56 | / | 81% | / | / | Progressive limb\-girdle weakness; multiple lipomas of neck/back/suprascapular region; RRF; lipid vacuoles; COX\-deficient fibers; complex III deficiency. | Index case; Figure 1 muscle load 81%. |
| 2 | 8344 | m.8344A\>G | A8344G\-F86 | A8344G\-F86\-III1 | Fam | F | N | N | A | ND | 40% | / | / | / | Healthy | Figure 1 blood load 40%. |
| 3 | 8344 | m.8344A\>G | A8344G\-F86 | A8344G\-F86\-III2 | Fam | M | N | N | A | ND | 42% | / | / | / | Increased CK; scattered COX\-deficient fibers. | Figure 1 blood load 42%. |

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