G5783A-F1

**Figure 1\. Pedigree diagram for family G5783A\-F1\.**

![](/media/202606/20260622010441924571.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5783 | m.5783G\>A | G5783A\-F1 | India | Myopathy, cardiomyopathy, renal failure, deafness | 2 | 0 | 2006 | [16955414](https://pubmed.ncbi.nlm.nih.gov/16955414/) | Carrying T15458C,T15519C |

The **m.5783G\>A** variant in MT\-TC was reported in family G5783A\-F1 from India with myopathy, cardiomyopathy, renal failure, deafness. 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 myopathy, shortstature, deafness, renalfailure, cardiomyopathy, muscleweakness, hypotonia, developmentaldelay.

# 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 | 5783 | m.5783G\>A | G5783A\-F1 | G5783A\-F1\-I2 | uninf | F | N | N | A | 32 | 90% | / | / | 90%(BM),90%(H) | Healthy | Carrying T15458C,T15519C |
| 2 | 5783 | m.5783G\>A | G5783A\-F1 | G5783A\-F1\-II1 | fam | F | N | N | A | ND | 81% | / | / | 90%(BM),93%(H) | Healthy | Carrying T15458C,T15519C |
| 3 | 5783 | m.5783G\>A | G5783A\-F1 | G5783A\-F1\-II2 | fam | F | Y | Y | D | 8 | 100% | 100% | / | 100%(Kidney) | Myopathy, shortstature, deafness, renalfailure, cardiomyopathy, muscleweakness, hypotonia, developmentaldelay, renaltubularacidosis, lacticacidemia, sensorineuralhearingimpairment, poorappetite, hypertension, hyperparathyroidism, cardiacfailure | Carrying T15458C,T15519C |

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