T9185C-F7

**Figure 1\. Pedigree diagram for family T9185C\-F7\.**

![](/media/202607/T9185C-F7-pedigree_20260701004826678994.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\-F7 | UK | CMT2/dHMN | 9 | 8 | 2012 | [22933740](https://pubmed.ncbi.nlm.nih.gov/22933740/) | Family B |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F7 from UK with cmt2/dhmn. The pedigree record reported 9 unaffected and 8 affected maternal relatives, and the carrier table includes 9 listed carriers. Homoplasmy was reported in 0/9 listed carriers; 5/9 carriers were affected, and the main clinical manifestation among affected carriers was cmt2, dhmn phenotype.

# 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\-F7 | T9185C\-F7\-II3 | Fam | F | N | N | A | ND | / | / | / | / | Asymptomatic carrier |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-II8 | Fam | M | Y | Y | A | 60 | 100% | / | / | / | CMT2/dHMN phenotype |  |
| 3 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-III1 | Fam | F | N | N | A | ND | / | / | / | / | Asymptomatic carrier |  |
| 4 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-III2 | Fam | M | N | Y | A | 49 | 80% | / | / | / | CMT2/dHMN phenotype |  |
| 5 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-III3 | Fam | F | N | Y | A | ND | / | / | / | / | CMT2/dHMN phenotype |  |
| 6 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-III5 | Fam | F | N | N | A | 49 | 73% | / | / | / | Asymptomatic carrier; upper motor neuron signs on examination |  |
| 7 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-III6 | Fam | F | N | Y | A | 46 | 100% | 100% | / | 100%(F) | CMT2/dHMN phenotype |  |
| 8 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-IV3 | Fam | F | N | Y | A | 19 | 100% | / | / | / | CMT2/dHMN phenotype |  |
| 9 | 9185 | m.9185T\>C | T9185C\-F7 | T9185C\-F7\-IV4 | Fam | F | N | N | A | 21 | 39% | / | / | / | Asymptomatic carrier |  |

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