A8344G-F47

**Figure 1\. Pedigree diagram for family A8344G\-F47\.**

![](/media/202607/A8344G-F47-pedigree_20260701024230948653.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\-F47 | USA | Myopathy/cardiomyopathy with MERRF mutation | 0 | 1 | 1993 | [8388680](https://pubmed.ncbi.nlm.nih.gov/8388680/) | Patient 5 mother molecularly confirmed A8344G; Patient 4 affected son had no frozen mtDNA tissue and is included as untested child of target\-positive mother; Patient 6 sudden death not entered. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F47 from USA with myopathy/cardiomyopathy with merrf mutation. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was adult\-onset myopathy, neuropathic pain, cardiomyopathy and respiratory failure, progressive myopathy with proximal weakness, strabismus, exotropia, facial weakness, dysphagia and waddling gait.

# 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\-F47 | A8344G\-F47\-II1 | Fam | F | Y | Y | D | 57 | / | 84% | / | 79%(Heart) | Adult\-onset myopathy, neuropathic pain, cardiomyopathy and respiratory failure | Patient 5 (II\-1 mother); died age 66\. |
| 2 | 8344 | m.8344A\>G | A8344G\-F47 | A8344G\-F47\-III2 | Fam | M | N | Y | D | 28 | / | / | / | / | Progressive myopathy with proximal weakness, strabismus/exotropia, facial weakness, dysphagia and waddling gait | Patient 4 (III\-2 son of Patient 5\); no frozen tissue for mtDNA analysis; fixed muscle biopsy had ragged\-red fibers/mitochondrial inclusions; died age 29\. |

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