G14846A-F1

**Figure 1\. Pedigree diagram for family G14846A\-F1\.**

![](/media/202606/20260630161710647040.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14846 | m.14846G\>A | G14846A\-F1 | USA | Exercise intolerance; masticatory fatigue; mitochondrial myopathy; complex III deficiency | 2 | 0 | 1999 | 10502593; support: 11506394, 11782982 | Later PMIDs are support\-only follow\-up of the same EO/Patient 2; two children tested negative. |

The **m.14846G\>A** variant in MT\-CYB was reported in family G14846A\-F1 from USA with exercise intolerance; masticatory fatigue; mitochondrial myopathy; complex iii deficiency. 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 exercise intolerance, masticatory fatigue, proximal limb weakness, hyperlactacidemia, mild myopathy, dyspnea.

# 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 | 14846 | m.14846G\>A | G14846A\-F1 | G14846A\-F1\-I1 | De novo | F | Y | Y | A | 52 | 0 | 85%; 98% in later biopsy | / | 0% (cultured myoblasts); 0% (F) | Exercise intolerance; masticatory fatigue; proximal limb weakness; hyperlactacidemia; mild myopathy; dyspnea | Same EO/Patient 2 as support PMIDs 11506394 and 11782982; single\-fiber PCR RRF 91%, non\-RRF 17%. |
| 2 | 14846 | m.14846G\>A | G14846A\-F1 | G14846A\-F1\-II1 | Fam | ND | N | N | A | ND | 0 | / | / | 0% (cultured myoblasts); 0% (F) | Healthy | Negative\-tested child of target\-positive mother; branch stop for descendants. |
| 3 | 14846 | m.14846G\>A | G14846A\-F1 | G14846A\-F1\-II2 | Fam | ND | N | N | A | ND | 0 | / | / | 0% (cultured myoblasts); 0% (F) | Healthy | Negative\-tested child of target\-positive mother; branch stop for descendants. |

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