G8340A-F4

**Figure 1\. Pedigree diagram for family G8340A\-F4\.**

![](/media/202607/G8340A-F4-pedigree_20260701024614804944.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 | 8340 | m.8340G\>A | G8340A\-F4 | Denmark | Pure myopathy; CPEO; exercise intolerance | 1 | 0 | 2013 | [24161205](https://pubmed.ncbi.nlm.nih.gov/24161205/) | / |

The **m.8340G\>A** variant in MT\-TK was reported in family G8340A\-F4 from Denmark with pure myopathy; cpeo; exercise intolerance. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was pure myopathy, exercise intolerance, cpeo, ptosis, limb weakness.

# 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 | 8340 | m.8340G\>A | G8340A\-F4 | G8340A\-F4\-III1 | De novo | F | Y | Y | A | 41 | 1% | 59% | 7% | 3% (BM); 95% (Ragged blue fibers); 22% (Normal fibers) | Pure myopathy; exercise intolerance; CPEO; ptosis; limb weakness | Original pedigree label \#3\.4; text reports average muscle 53%, while Fig. 1A labels M 59%. |
| 2 | 8340 | m.8340G\>A | G8340A\-F4 | G8340A\-F4\-IV1 | Fam | M | N | N | A | 16 | / | / | 0 | 0 (BM) | Healthy | Original label \#4\.1; urine and buccal epithelial cells negative. |

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