T9185C-F25

**Figure 1\. Pedigree diagram for family T9185C\-F25\.**

![](/media/202607/T9185C-F25-pedigree_20260701005102063624.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 | 9185 | m.9185T\>C | T9185C\-F25 | France | Episodic weakness and motor neuropathy; MELAS | 39 | 18 | 2013 | [24153443](https://pubmed.ncbi.nlm.nih.gov/24153443/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F25 from France with episodic weakness and motor neuropathy; melas. The pedigree record reported 39 unaffected and 18 affected maternal relatives, and the carrier table includes 13 listed carriers. Homoplasmy was reported in 0/13 listed carriers; 11/13 carriers were affected, and the main clinical manifestation among affected carriers was gait disturbance., peripheral neuropathy, periodic paralysis onset 18 y, diplopia onset 36 y, gait disorder onset 33 y, pes cavus, proprioceptive ataxia, pyramidal syndrome.

# 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 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-III6 | Fam | F | N | Y | A | 60 | 83% | 100% | 100% | 100%(BM); 35%(H); 100%(F) | Gait disturbance. |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-IV2 | Fam | F | N | Y | A | ND | 100% | / | 74% | 95%(BM); 77%(H) | peripheral neuropathy |  |
| 3 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-IV3 | Fam | F | N | Y | A | ND | 53% | / | 94% | 85%(BM); 81%(H) | peripheral neuropathy |  |
| 4 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-IV4 | Fam | M | N | Y | A | ND | 100% | / | 98% | 99%(BM); 98%(H) | peripheral neuropathy |  |
| 5 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-IV5 | Fam | F | N | Y | A | 43 | 98% | 100% | 78% | 100%(BM); 100%(H); 99%(F) | Periodic paralysis onset 18 y; diplopia onset 36 y; gait disorder onset 33 y; pes cavus; proprioceptive ataxia; pyramidal syndrome; motor neuropathy UL\+LL. | Carrying m.3271T\>C |
| 6 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-IV6 | Fam | F | N | N | A | ND | 87% | / | 74% | 67%(BM); 67%(H) | Healthy |  |
| 7 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-IV16 | Fam | M | N | Y | A | ND | 99% | / | 89% | 99%(BM); 97%(H) | peripheral neuropathy |  |
| 8 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-V3 | Fam | M | N | Y | A | ND | 100% | / | 100% | 100%(BM); 78%(H) | peripheral neuropathy |  |
| 9 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-V5 | Fam | F | N | Y | A | ND | 89% | / | 99% | 100%(BM); 100%(H); 99%(F) | Periodic paralysis onset 13 y; diplopia onset 21 y; gait disorder since childhood; pes cavus; proprioceptive and cerebellar ataxia; pyramidal syndrome; cognitive impairment; motor neuropathy UL\+LL. |  |
| 10 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-V9 | Fam | F | Y | Y | D | 15 | 82% | 100% | 94% | 98%(BM); 92%(H) | Typical MELAS syndrome | Carrying m.3271T\>C |
| 11 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-V12 | Fam | F | N | Y | A | 24 | 99% | 98% | / | 88%(BM); 96%(H) | Periodic paralysis onset 12 y; diplopia onset 25 y; gait disorder onset 18 y; pes cavus; proprioceptive ataxia; motor neuropathy UL\+LL; brain MRI normal. |  |
| 12 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-V13 | Fam | F | N | Y | A | ND | / | / | / | 99%(BM); 99%(H) | peripheral neuropathy |  |
| 13 | 9185 | m.9185T\>C | T9185C\-F25 | T9185C\-F25\-V18 | Fam | F | N | ND | A | ND | 73% | / | 71% | / | pes cavus |  |

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