A10438G-F1

**Figure 1\. Pedigree diagram for family A10438G\-F1\.**

![](/media/202606/20260622171631138987.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10438 | m.10438A\>G | A10438G\-F1 | Finland | Mitochondrial encephalomyopathy | 3 | 0 | 2004 | [15286228](https://pubmed.ncbi.nlm.nih.gov/15286228/) |  |

The **m.10438A\>G** variant in MT\-TR was reported in family A10438G\-F1 from Finland with mitochondrial encephalomyopathy. The pedigree record reported 3 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 moderate mental retardation, broad\-based gait, clumsiness, weak facial muscles, nystagmus and decreased visual acuity, dysmyelination.

# 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 | 10438 | m.10438A\>G | A10438G\-F1 | A10438G\-F1\-III1 | Fam | M | Y | Y | A | 10 | 73% | 88% | / | / | Moderate mental retardation; broad\-based gait/clumsiness; weak facial muscles; nystagmus and decreased visual acuity; dysmyelination |  |
| 2 | 10438 | m.10438A\>G | A10438G\-F1 | A10438G\-F1\-I2 | Uninf | F | N | N | A | ND | 17% | / | / | 8%(BM) | Healthy |  |
| 3 | 10438 | m.10438A\>G | A10438G\-F1 | A10438G\-F1\-II2 | Fam | F | N | N | A | ND | 19% | / | / | / | Healthy |  |

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