G15497A-F1

**Figure 1\. Pedigree diagram for family G15497A\-F1\.**

![](/media/202606/20260630162453637488.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 15497 | m.15497G\>A | G15497A\-F1 | Canada | Exercise Intolerance, Low Aerobic Capacity, Paracrystalline Inclusion Myopathy | 1 | 1 | 2004 | [15052619](https://pubmed.ncbi.nlm.nih.gov/15052619/) |  |

The **m.15497G\>A** variant in MT\-CYB was reported in family G15497A\-F1 from Canada with exercise intolerance, low aerobic capacity, paracrystalline inclusion myopathy. The pedigree record reported 1 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was seizures in late teens, normal neurological exam, exercise intolerance, low aerobic capacity, paracrystalline inclusion myopathy.

# 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 | 15497 | m.15497G\>A | G15497A\-F1 | G15497A\-F1\-I1 | Uninf | F | N | Y | A | ND | Homo | Homo | / | / | Seizures in late teens; normal neurological exam |  |
| 2 | 15497 | m.15497G\>A | G15497A\-F1 | G15497A\-F1\-II1 | Fam | M | Y | Y | A | 22 | Homo | Homo | / | / | Exercise Intolerance, Low Aerobic Capacity, Paracrystalline Inclusion Myopathy |  |
| 3 | 15497 | m.15497G\>A | G15497A\-F1 | G15497A\-F1\-II2 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy |  |

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