A1555G-F56

**Figure 1\. Pedigree diagram for family A1555G\-F56\.**

![](/media/202607/A1555G-F56-pedigree_20260701022059643706.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 | 1555 | m.1555A\>G | A1555G\-F56 | United States | Restrictive cardiomyopathy | 2 | ND | 1999 | [9915970](https://pubmed.ncbi.nlm.nih.gov/9915970/) |  |

The **m.1555A\>G** variant in MT\-RNR1 was reported in family A1555G\-F56 from United States with restrictive cardiomyopathy. The pedigree record reported 2 unaffected and ND 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 restrictive cardiomyopathy with heart failure.

# 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 | 1555 | m.1555A\>G | A1555G\-F56 | A1555G\-F56\-III2 | Fam | F | Y | Y | A | 35 | 57% | 55% | / | 60%(F); 89%(heart) | Restrictive cardiomyopathy with heart failure |  |
| 2 | 1555 | m.1555A\>G | A1555G\-F56 | A1555G\-F56\-IV1 | Fam | F | N | N | A | 11 | 95% | / | / | / | Healthy |  |
| 3 | 1555 | m.1555A\>G | A1555G\-F56 | A1555G\-F56\-IV2 | Fam | F | N | N | A | 7 | 50% | / | / | / | Healthy |  |

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