A13528G-F5

**Figure 1\. Pedigree diagram for family A13528G\-F5\.**

![](/media/202607/A13528G-F5-pedigree_20260701012911878816.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 | 13528 | m.13528A\>G | A13528G\-F5 | United Kingdom | MELAS\-like mitochondrial disease with POLG A467T background | 1 | 0 | 2016 | [26735972](https://pubmed.ncbi.nlm.nih.gov/26735972/) | POLG homozygous A467T is major nuclear background; mtDNA variants should be annotated cautiously.; Patient 4 family; Patient table and genetic discussion.; United Kingdom/European clinical genetics setting; Same Patient 4 report lists C13565T, but mother evidence was not extrapolated to C13565T. |

The **m.13528A\>G** variant in MT\-ND5 was reported in family A13528G\-F5 from United Kingdom with melas\-like mitochondrial disease with polg a467t background. The pedigree record reported 1 unaffected and 0 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 1/2 listed carriers; 1/2 carriers were affected, and the main clinical manifestation among affected carriers was seizures, stroke\-like episode, deafness, myopathic weakness, ptosis, ophthalmoparesis, dysarthria, ataxia.

# 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 | 13528 | m.13528A\>G | A13528G\-F5 | A13528G\-F5\-II1 | Uninf | F | Y | Y | A | 31 | Homo | Homo | / | / | Seizures; stroke\-like episode; deafness; myopathic weakness; ptosis; ophthalmoparesis; dysarthria; ataxia | Patient 4; onset at 24; alive at 31 |
| 2 | 13528 | m.13528A\>G | A13528G\-F5 | A13528G\-F5\-I2 | Uninf | F | N | N | A | ND | Het | / | / | / | Healthy |  |

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