T3271C-F2

**Figure 1\. Pedigree diagram for family T3271C\-F2\.**

![](/media/202606/20260630210156916870.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3271 | m.3271T\>C | T3271C\-F2 | Japan | Encephalo\-myo\-neuropathy | 4 | 3 | 2001 | [11404119](https://pubmed.ncbi.nlm.nih.gov/11404119/) |  |

The **m.3271T\>C** variant in MT\-TL1 was reported in family T3271C\-F2 from Japan with encephalo\-myo\-neuropathy. The pedigree record reported 4 unaffected and 3 affected maternal relatives, and the carrier table includes 8 listed carriers. Homoplasmy was reported in 0/8 listed carriers; 4/8 carriers were affected, and the main clinical manifestation among affected carriers was cerebellar ataxia, stroke, sudden death, dementia (memory loss), photo\-reactive syncope, seizure, abnormal eye movement, hearing disturbance.

# 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 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-I2 | Uninf | F | N | N | D | 67 | / | / | / | / | Healthy |  |
| 2 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-II1 | Fam | M | N | Y | D | 32 | / | / | / | / | Cerebellar ataxia, stroke, sudden death |  |
| 3 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-II3 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 4 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-II5 | Fam | F | Y | Y | A | 48 | / | / | / | / | Dementia (memory loss), photo\-reactive syncope/seizure, abnormal eye movement, hearing disturbance, dysarthria, facial myokymia \& spasm, tremor \& myoclonus, limb \& truncal ataxia, hypotonia, hyporeflexia, distal amyotrophy, distal sensory loss |  |
| 5 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-III5 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-III6 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-III7 | Fam | M | N | Y | A | 20 | / | / | / | / | Photo\-reactive syncope/seizure, abnormal eye movement, hearing disturbance, dysarthria, facial myokymia \& spasm, tremor \& myoclonus, limb \& truncal ataxia, hypotonia, hyporeflexia, distal amyotrophy, distal sensory loss |  |
| 8 | 3271 | m.3271T\>C | T3271C\-F2 | T3271C\-F2\-III8 | Fam | M | N | Y | A | 19 | / | / | / | / | Photo\-reactive syncope/seizure, dysarthria, tremor \& myoclonus, limb \& truncal ataxia, hypotonia, hyporeflexia, distal amyotrophy, distal sensory loss |  |

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