G622A-F1

**Figure 1\. Pedigree diagram for family G622A\-F1\.**

![](/media/202607/G622A-F1-pedigree_20260701022958112442.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 | 622 | m.622G\>A | G622A\-F1 | Germany | Late\-Onset Neuromuscular Disease, mild myopathy and peripheral neuropathy | 3 | 1 | 2006 | [16769874](https://pubmed.ncbi.nlm.nih.gov/16769874/) |  |

The **m.622G\>A** variant in MT\-TF was reported in family G622A\-F1 from Germany with late\-onset neuromuscular disease, mild myopathy and peripheral neuropathy. The pedigree record reported 3 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was walking difficulties, exercise intolerance and paresthesia in the feet, mild hearing impairment.

# 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 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-II1 | Fam | F | Y | Y | A | 66 | 36% | 88% | 66% | 70% (H); 63% (BM) | Walking difficulties, exercise intolerance and paresthesia in the feet, mild hearing impairment |  |
| 2 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-I2 | Uninf | F | N | Y | D | ND | / | / | / | / | Walking difficulties |  |
| 3 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-II2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 622 | m.622G\>A | G622A\-F1 | G622A\-F1\-III1 | Fam | F | N | N | A | ND | 15\.00% | / | 15\.00% | 15% (BM); 15% (H) | Healthy |  |

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