T9185C-F8

**Figure 1\. Pedigree diagram for family T9185C\-F8\.**

![](/media/202607/T9185C-F8-pedigree_20260701004848895576.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\-F8 | UK | CMT2/dHMN | 11 | 4 | 2012 | [22933740](https://pubmed.ncbi.nlm.nih.gov/22933740/) | Family C |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F8 from UK with cmt2/dhmn. The pedigree record reported 11 unaffected and 4 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 2/5 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\-F8 | T9185C\-F8\-II4 | Fam | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F8 | T9185C\-F8\-III5 | Fam | F | N | N | A | 48 | 75% | / | / | / | Asymptomatic carrier |  |
| 3 | 9185 | m.9185T\>C | T9185C\-F8 | T9185C\-F8\-III13 | Fam | M | Y | Y | A | ND | 100% | / | / | / | CMT2/dHMN phenotype |  |
| 4 | 9185 | m.9185T\>C | T9185C\-F8 | T9185C\-F8\-IV1 | Fam | M | N | N | A | 18 | 45% | / | / | / | Asymptomatic carrier |  |
| 5 | 9185 | m.9185T\>C | T9185C\-F8 | T9185C\-F8\-IV2 | Fam | M | N | Y | A | 21 | 100% | / | / | / | CMT2/dHMN phenotype |  |

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