G13063A-F1

**Figure 1\. Pedigree diagram for family G13063A\-F1\.**

![](/media/202607/G13063A-F1-pedigree_20260701013207490204.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 | 13063 | m.13063G\>A | G13063A\-F1 | Italy inferred | mitochondrial encephalopathy / ataxia | 8 | 0 | 2007 | [17535832](https://pubmed.ncbi.nlm.nih.gov/17535832/) | Pedigree recheck added three direct maternal\-line relatives with leukocyte load 0 from Fig. 1C; their descendants are excluded because each L\=0 person is a branch stop. |

The **m.13063G\>A** variant in MT\-ND5 was reported in family G13063A\-F1 from Italy inferred with mitochondrial encephalopathy / ataxia. The pedigree record reported 8 unaffected and 0 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 0/9 listed carriers; 1/9 carriers were affected, and the main clinical manifestation among affected carriers was adult\-onset ataxia, transient visual loss, gait instability, slurred speech, excessive fragmentary hypnic myoclonus, midbrain mri lesion.

# 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 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-III1 | Fam | M | Y | Y | A | 32 years (onset) | 25% | 80% | / | 70%(F) | Adult\-onset ataxia; transient visual loss; gait instability; slurred speech; excessive fragmentary hypnic myoclonus; midbrain MRI lesion | text and Fig.1C; Source: Patient 6 proband; Ragged\-red fibers; complex I deficiency. |
| 2 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-II1 | Fam | F | N | ND | A | ND | 40% | / | / | / | ND | Provisional label from pedigree figure; relation inferred as maternal relative/mother.; Fig.1C rendered page 3; Source: Fig.1C maternal relative / mother; Clinical status not described. |
| 3 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-III2 | Fam | F | N | ND | A | ND | 40% | / | / | / | ND | Provisional label from pedigree figure.; Fig.1C rendered page 3; Source: Fig.1C sibling/sister 1; Clinical status not described. |
| 4 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-III3 | Fam | F | N | ND | A | ND | 30% | / | / | / | ND | Provisional label from pedigree figure.; Fig.1C rendered page 3; Source: Fig.1C sibling/sister 2; Clinical status not described. |
| 5 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-III4 | Fam | F | N | ND | A | ND | 20% | / | / | / | ND | Provisional label from pedigree figure.; Fig.1C rendered page 3; Source: Fig.1C sibling/sister 3; Clinical status not described. |
| 6 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-I2 | Fam | F | N | ND | A | ND | \<6% | / | / | / | ND | Provisional label from pedigree figure.; Fig.1C rendered page 3; Source: Fig.1C maternal ancestor; Clinical status not described. |
| 7 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-II3 | Fam | M | N | N | ND | ND | 0% | / | / | / | Healthy | Leukocyte load 0 in direct maternal\-line child of low\-level target\-positive maternal ancestor; branch stop for descendants. |
| 8 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-II4 | Fam | F | N | N | ND | ND | 0% | / | / | / | Healthy | Leukocyte load 0 in direct maternal\-line child of low\-level target\-positive maternal ancestor; branch stop for descendants. |
| 9 | 13063 | m.13063G\>A | G13063A\-F1 | G13063A\-F1\-II5 | Fam | F | N | N | ND | ND | 0% | / | / | / | Healthy | Leukocyte load 0 in direct maternal\-line child of low\-level target\-positive maternal ancestor; branch stop for descendants. |

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