C8305T-F1

**Figure 1\. Pedigree diagram for family C8305T\-F1\.**

![](/media/202607/C8305T-F1-pedigree_20260701024546850179.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 | 8305 | m.8305C\>T | C8305T\-F1 | Spain | Mitochondrial myopathy | 2 | 0 | 2017 | [29174468](https://pubmed.ncbi.nlm.nih.gov/29174468/) | / |

The **m.8305C\>T** variant in MT\-TK was reported in family C8305T\-F1 from Spain with mitochondrial 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 mitochondrial myopathy, bilateral eyelid ptosis, episodic muscle weakness, dysphagia, mild psoas, knee extensor 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 | 8305 | m.8305C\>T | C8305T\-F1 | C8305T\-F1\-II1 | De novo | F | Y | Y | A | 44 | 0 | COX\- fibers 51\.5%; COX\+ fibers 5% | 0 | / | Mitochondrial myopathy; bilateral eyelid ptosis; episodic muscle weakness; dysphagia; mild psoas/knee extensor weakness | Bulk muscle load not reported; muscle values are from microdissected COX\-negative/COX\-positive fibers. m.8305C\>T was undetectable in blood and urinary epithelial cells from Patient 1; mother and younger brother negative in available blood/urine samples. Muscle biopsy showed RRF and COX\-negative fibers; respiratory chain complex I/III/IV defects. |
| 2 | 8305 | m.8305C\>T | C8305T\-F1 | C8305T\-F1\-II2 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Son of Patient 1; no molecular testing; neurological exam normal. |
| 3 | 8305 | m.8305C\>T | C8305T\-F1 | C8305T\-F1\-II3 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Son of Patient 1; no molecular testing; neurological exam normal. |

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