G3376A-F1

**Figure 1\. Pedigree diagram for family G3376A\-F1\.**

![](/media/202606/20260630031857374572.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3376 | m.3376G\>A | G3376A\-F1 | UK | Progressive encephalopathy,Progressive encephalopathyCortical visual loss / Optic atrophySensorineural deafnessMyoclonusHemiparesisAtaxiaLactic acidosisOccipital and thalamic lesions on MRIMitochondrial myopathyNormal COX/SDH histochemistry | 0 | 0 | 2005 | [15657614](https://pubmed.ncbi.nlm.nih.gov/15657614/) |  |

The **m.3376G\>A** variant in the mitochondrial locus was reported in family G3376A\-F1 from UK with progressive encephalopathy,progressive encephalopathy  
cortical visual loss / optic atrophy  
sensorineural deafness  
myoclonus  
hemiparesis  
ataxia  
lactic acidosis  
occipital and thalamic lesions on mri  
mitochondrial myopathy  
normal cox/sdh histochemistry. The pedigree record reported 0 unaffected and 0 affected maternal relatives, and the carrier table includes 1 listed carriers. Homoplasmy was reported in 0/1 listed carriers; 1/1 carriers were affected, and the main clinical manifestation among affected carriers was progressive encephalopathy, progressive encephalopathy  
cortical visual loss, optic atrophy  
sensorineural deafness  
myoclonus  
hemiparesis  
ataxia  
lactic acidosis  
occipital and thalamic lesions on mri  
mitochondrial myopathy  
normal cox, sdh histochemistry.

# 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 | 3376 | m.3376G\>A | G3376A\-F1 | G3376A\-F1\-II3 | De novo | F | Y | Y | A | 43 | 18% | 98% | 67% | / | Progressive encephalopathy,Progressive encephalopathyCortical visual loss / Optic atrophySensorineural deafnessMyoclonusHemiparesisAtaxiaLactic acidosisOccipital and thalamic lesions on MRIMitochondrial myopathyNormal COX/SDH histochemistry |  |

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