G1644A-F3

**Figure 1\. Pedigree diagram for family G1644A\-F3\.**

![](/media/202606/20260625174449742457.png)

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# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 1644 | m.1644G\>A | G1644A\-F3 | France | Psychomotor regression, axial dystonia, generalized dystonia, parkinsonism, cognitive impairment, insulin‑dependent diabetes | 7 | 1 | 2014 | [24691472](https://pubmed.ncbi.nlm.nih.gov/24691472/) |  |

The **m.1644G\>A** variant in MT\-TV was reported in family G1644A\-F3 from France with psychomotor regression, axial dystonia, generalized dystonia, parkinsonism, cognitive impairment, insulin‑dependent diabetes. The pedigree record reported 7 unaffected and 1 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 1/5 listed carriers; 2/5 carriers were affected, and the main clinical manifestation among affected carriers was psychomotor regression, axial dystonia, generalized dystonia, parkinsonism, cognitive impairment, insulin‑dependent diabetes, developmental delay, partial seizures.

# 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 | 1644 | m.1644G\>A | G1644A\-F3 | G1644A\-F3\-II4 | Fam | F | Y | Y | A | 42 | / | Homo | 98% | 98%(BM),Homo(Nasal C),Homo(F) | Psychomotor regression, axial dystonia, generalized dystonia, parkinsonism, cognitive impairment, insulin‑dependent diabetes |  |
| 2 | 1644 | m.1644G\>A | G1644A\-F3 | G1644A\-F3\-III1 | Fam | F | N | Y | A | 7 | 63% | 61% | 74% | 66%(BM),66%(F) | Developmental delay, partial seizures, strabismus, cerebellar ataxia, myoclonus, truncal ataxia, dysmetria, dysmorphia |  |
| 3 | 1644 | m.1644G\>A | G1644A\-F3 | G1644A\-F3\-I1 | Fam | F | N | N | A | ND | 64% | ND | 65% | 54%(BM),64%(Nasal C) | Healthy |  |
| 4 | 1644 | m.1644G\>A | G1644A\-F3 | G1644A\-F3\-II2 | Fam | F | N | N | A | ND | 65% | ND | 79% | 68%(BM) | Healthy |  |
| 5 | 1644 | m.1644G\>A | G1644A\-F3 | G1644A\-F3\-II6 | Fam | F | N | N | A | ND | 56% | ND | 47% | 52%(BM) | Healthy |  |

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