A3243G-F441

**Figure 1\. Pedigree diagram for family A3243G\-F441\.**

![](/media/202607/A3243G-F441-pedigree_20260701031200780320.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 | 3243 | m.3243A\>G | A3243G\-F441 | Japan | Mitochondrial cardiomyopathy; MELAS\-related multiple organ dysfunction syndrome | 0 | 2 | 2008 | [17689757](https://pubmed.ncbi.nlm.nih.gov/17689757/) | G/H count basis documented in report. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F441 from Japan with mitochondrial cardiomyopathy; melas\-related multiple organ dysfunction syndrome. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was mitochondrial cardiomyopathy, heart, hepatic, and renal failure, lactic acidosis, short stature, hearing difficulty, av block.

# 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 | 3243 | m.3243A\>G | A3243G\-F441 | A3243G\-F441\-P1 | Fam | F | Y | Y | A | 49 | / | / | / | / | Mitochondrial cardiomyopathy; Heart, hepatic, and renal failure; Lactic acidosis; Short stature; Hearing difficulty; AV block; Permanent pacemaker; Abnormal glucose tolerance; Mild muscle atrophy | A3243G identified from leukocytes and sternocleidomastoid muscle; exact mutant load not reported. |
| 2 | 3243 | m.3243A\>G | A3243G\-F441 | A3243G\-F441\-P2 | Fam | F | N | Y | ND | ND | / | / | / | / | Short stature | No molecular testing in child; included because mother has confirmed A3243G and child phenotype is explicitly reported. |
| 3 | 3243 | m.3243A\>G | A3243G\-F441 | A3243G\-F441\-P3 | Fam | F | N | Y | ND | ND | / | / | / | / | Short stature | No molecular testing in child; included because mother has confirmed A3243G and child phenotype is explicitly reported. |

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