T3291C-F5

**Figure 1\. Pedigree diagram for family T3291C\-F5\.**

![](/media/202606/20260630210841397756.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3291 | m.3291T\>C | T3291C\-F5 | UK | Deafness, falls, speech disturbance, weight loss, macroglossia, dysarthria, pes cavus, dorsocervical fat pad, lipoma, reduced muscle bulk, mild proximal muscle weakness, suppressed limb reflexes, reduced dorsal column sensation at toes and ankles, limb dysmetria, broad\-based gait, inability to perform tandem gait, generalised brain atrophy, fatty tongue infiltration, active denervation in lower limbs and right bicep, reduced muscle recruitment | 2 | 0 | 2013 | [23273904](https://pubmed.ncbi.nlm.nih.gov/23273904/) |  |

The **m.3291T\>C** variant in MT\-TL1 was reported in family T3291C\-F5 from UK with deafness, falls, speech disturbance, weight loss, macroglossia, dysarthria, pes cavus, dorsocervical fat pad, lipoma, reduced muscle bulk, mild proximal muscle weakness, suppressed limb reflexes, reduced dorsal column sensation at toes and ankles, limb dysmetria, broad\-based gait, inability to perform tandem gait, generalised brain atrophy, fatty tongue infiltration, active denervation in lower limbs and right bicep, reduced muscle recruitment. 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 deafness, falls, speech disturbance, weight loss, macroglossia, dysarthria, pes cavus, dorsocervical fat pad.

# 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 | 3291 | m.3291T\>C | T3291C\-F5 | T3291C\-F5\-I2 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 3291 | m.3291T\>C | T3291C\-F5 | T3291C\-F5\-II1 | Fam | M | Y | Y | A | 55 | / | 39% | / | / | Deafness, falls, speech disturbance, weight loss, macroglossia, dysarthria, pes cavus, dorsocervical fat pad, lipoma, reduced muscle bulk, mild proximal muscle weakness, suppressed limb reflexes, reduced dorsal column sensation at toes and ankles, limb dysmetria, broad\-based gait, inability to perform tandem gait, generalised brain atrophy, fatty tongue infiltration, active denervation in lower limbs and right bicep, reduced muscle recruitment |  |
| 3 | 3291 | m.3291T\>C | T3291C\-F5 | T3291C\-F5\-II2 | Fam | F | N | N | A | ND | \+ | \+ | / | / | Healthy |  |

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