T9185C-F26

**Figure 1\. Pedigree diagram for family T9185C\-F26\.**

| Pedigree diagram for family T9185C-F26 |
| --- |

![](/media/202607/T9185C-F26-pedigree_20260701005123415831.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\-F26 | France | Episodic weakness and motor neuropathy | ND | ND | 2013 | [24153443](https://pubmed.ncbi.nlm.nih.gov/24153443/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F26 from France with episodic weakness and motor neuropathy. The pedigree record reported ND unaffected and ND affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was periodic paralysis, gait disorder, pes cavus, motor neuropathy ll..

# 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\-F26 | T9185C\-F26\-P1 | Uninf | F | ND | Y | ND | ND | Homo | / | / | / | Periodic paralysis; gait disorder; pes cavus; motor neuropathy LL. |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F26 | T9185C\-F26\-P2 | Uninf | M | ND | Y | ND | ND | Homo | / | / | / | Periodic paralysis; gait disorder; pes cavus; motor neuropathy LL. |  |

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