A9972C-F1

**Figure 1\. Pedigree diagram for family A9972C\-F1\.**

![](/media/202606/f4d8eece3a644950a7e7b92c5b3267687237.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9972 | m.9972A\>C | A9972C\-F1 | Northern European ancestry | Exercise intolerance; autoimmune polyendocrinopathy type 2; mitochondrial myopathy | 2 | 0 | 2009 | [19460300](https://pubmed.ncbi.nlm.nih.gov/19460300/) |  |

The **m.9972A\>C** variant in MT\-CO3 was reported in family A9972C\-F1 from Northern European ancestry with exercise intolerance; autoimmune polyendocrinopathy type 2; mitochondrial myopathy. The pedigree record reported 2 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 growth retardation, exercise intolerance, lactic acidosis, fatigue, leg pain, vomiting after exertion, diffuse muscle wasting, proximal weakness.

# 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 | 9972 | m.9972A\>C | A9972C\-F1 | A9972C\-F1\-II2 | Fam | F | Y | Y | A | 12 | 0% | 99% | 5% | 5%(gastric cells); 2%(F); 0%(H); 96\.8%(COX\-negative fibers); 76\.26%(COX\-positive fibers) | Growth retardation, exercise intolerance, lactic acidosis, fatigue, leg pain, vomiting after exertion, diffuse muscle wasting, proximal weakness, APS2, mitochondrial myopathy |  |
| 2 | 9972 | m.9972A\>C | A9972C\-F1 | A9972C\-F1\-I1 | Uninf | F | N | N | A | ND | \<0\.1% | / | 1\.5% | / | No similarly affected relatives reported |  |
| 3 | 9972 | m.9972A\>C | A9972C\-F1 | A9972C\-F1\-II1 | Fam | F | N | N | A | ND | / | / | / | / | Completely asymptomatic |  |

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