A7526G

# **General Information**

| **Position** | **7526** | **Variant** | **m.7526A\>G** | **Locus** | **MT\-TD** | **RNA** | **tRNA Asp** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 50\.40% | **Pathogenicity** | Reported \[VUS] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.7526A\>G** variant in MT\-TD has been reported in 1 pedigree. To date, 1 carrier has been reported. Reported mutation loads ranged from 3% to 100%, with a median of 3% overall; affected carriers showed mutation loads from 3% to 100%, with a median of 3%. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (approximately 100%) than in blood (less than 3%) and fibroblasts (less than 3%). The main clinical manifestations among affected carriers included exercise intolerance, gait disturbance, hypotonia, limb girdle weakness, limited eye abduction, malaise, myalgia, and tachycardia on exercise.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7526 | m.7526A\>G | A7526G\-F1 | Belgium | Mitochondrial myopathy | ND | ND | 2005 | [16059939](https://pubmed.ncbi.nlm.nih.gov/16059939/) |  |

# **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 | 7526 | m.7526A\>G | A7526G\-F1 | A7526G\-F1\-II1 | De novo | F | Y | Y | A | 12 | \<3% | \~100% | / | \<3% (F) | Exercise intolerance, myalgia, malaise, hypotonia, gait disturbance, limb girdle weakness, tachycardia on exercise, limited eye abduction |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).