A8344G-F115

**Figure 1\. Pedigree diagram for family A8344G\-F115\.**

![](/media/202607/A8344G-F115-pedigree_20260701023717784626.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\-F115 | Italy | MERRF\-associated myo\-cardiomyopathy; respiratory insufficiency; lactic acidosis | ND | ND | 2015 | [25559684](https://pubmed.ncbi.nlm.nih.gov/25559684/) | Main PDF reports 15 A8344G patients from seven unrelated Italian families but does not map patient\-to\-family; one unresolved cohort family row is used. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F115 from Italy with merrf\-associated myo\-cardiomyopathy; respiratory insufficiency; lactic acidosis. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in 0/15 listed carriers; 14/15 carriers were affected, and the main clinical manifestation among affected carriers was exercise intolerance, lactic acidosis, muscle weakness, respiratory involvement, myoclonus, cognitive deterioration, cardiac involvement, seizures.

# 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\-F115 | A8344G\-F115\-II1 | Fam | F | Y | Y | D | 71 | 70% | 75% | / | / | Exercise intolerance, lactic acidosis, muscle weakness, respiratory involvement, myoclonus, cognitive deterioration, cardiac involvement | Died after disease course; patient\-family mapping unavailable |
| 2 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II2 | Fam | F | Y | Y | A | 61 | 62% | 76% | / | / | Exercise intolerance, lactic acidosis, muscle weakness, respiratory involvement, seizures, psychiatric involvement, dysrhythmia/deafness | Patient\-family mapping unavailable |
| 3 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II3 | Fam | F | Y | Y | A | 53 | 76% | 87% | / | / | Exercise intolerance, lactic acidosis, weakness, neuropathy, respiratory involvement, seizures, cardiomyopathy/deafness | Patient\-family mapping unavailable |
| 4 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II4 | Fam | M | Y | Y | D | 32 | / | 75% first and second biopsy | / | / | Exercise intolerance, lactic acidosis, weakness, respiratory involvement, myoclonus, seizures, cognitive impairment, cardiomyopathy/liver involvement | Blood not done; died |
| 5 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II5 | Fam | F | Y | Y | A | 32 | / | 75% | / | 13%(F) | Multiple lipomas, endocrine involvement | Patient\-family mapping unavailable |
| 6 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II6 | Fam | F | Y | Y | D | 16 | 30% | 88% | / | / | Exercise intolerance, severe lactic acidosis, photo\-paroxysmal episodes, metabolic failure/epileptic status | Died at 16 |
| 7 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II7 | Fam | F | Y | Y | D | 53 | 80% | 85% | / | / | Myo\-cardiomyopathy; lactic acidosis/cardiorespiratory failure | Died; patient\-family mapping unavailable |
| 8 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II8 | Fam | F | Y | N | A | 53 | / | 50% | / | / | Healthy | Text states Pt8 was non\-symptomatic |
| 9 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II9 | Fam | F | Y | Y | A | 32 | 25% | 10% | / | / | Mild symptomatic | Prior missed blood 25% |
| 10 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II10 | Fam | M | Y | Y | A | 30 | 0/not detectable | 75% | / | / | Exercise intolerance, migraine | Table 2 footnote b: blood not detectable; do not enter Pt11 blood 50% for Pt10; family history positive |
| 11 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II11 | Fam | M | Y | Y | A | 55 | 50% | 78% | / | / | Exercise intolerance, lactic acidosis, respiratory/cardiac involvement, deafness | Patient\-family mapping unavailable |
| 12 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II12 | Fam | M | Y | Y | A | 58 | 65% | 75% | / | / | Exercise intolerance, lactic acidosis, neuropathy, respiratory/cardiac involvement, deafness | Patient\-family mapping unavailable |
| 13 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II13 | Fam | F | Y | Y | D | 43 | 60% | 87% | / | / | Ataxic syndrome, depression, myoclonus, seizures, liver failure, pulmonary hypertension, stroke\-like episode | Died of cardiometabolic failure |
| 14 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II14 | Fam | F | Y | Y | A | 30 | 80% | 85% | / | / | Muscle weakness, myoclonus, seizures | Patient\-family mapping unavailable; myopathic EMG, increased CK, EEG abnormalities |
| 15 | 8344 | m.8344A\>G | A8344G\-F115 | A8344G\-F115\-II15 | Fam | M | Y | Y | A | 8 | 70% | 77% | / | / | Leigh phenotype with psychomotor regression, lactic acidosis, seizures, cognitive impairment | Patient\-family mapping unavailable |

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