T9185C-F6

**Figure 1\. Pedigree diagram for family T9185C\-F6\.**

![](/media/202607/T9185C-F6-pedigree_20260701004801059080.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\-F6 | UK | CMT2/dHMN; neuropathy and Leigh\-like disease | 11 | 10 | 2012 | [22933740](https://pubmed.ncbi.nlm.nih.gov/22933740/) | Family A |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F6 from UK with cmt2/dhmn; neuropathy and leigh\-like disease. The pedigree record reported 11 unaffected and 10 affected maternal relatives, and the carrier table includes 12 listed carriers. Homoplasmy was reported in 0/12 listed carriers; 10/12 carriers were affected, and the main clinical manifestation among affected carriers was falls, pure motor neuropathy, motor neuropathy, cmt2, dhmn phenotype, leigh\-like disease, cortical blindness, died.

# 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\-F6 | T9185C\-F6\-II1 | Fam | F | N | Y | A | 57 | 100% | / | / | / | Falls; pure motor neuropathy |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-II3 | Fam | F | N | Y | A | 55 | 100% | / | / | / | Motor neuropathy |  |
| 3 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-II4 | Fam | F | N | N | A | 51 | 63% | / | / | / | Asymptomatic carrier |  |
| 4 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-II5 | Fam | M | N | Y | A | 47 | 100% | / | / | / | Motor neuropathy |  |
| 5 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-III4 | Fam | F | N | Y | A | 32 | 100% | / | / | / | CMT2/dHMN phenotype |  |
| 6 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-III5 | Fam | F | N | Y | D | 16 | 100% | 100% | / | / | Leigh\-like disease; cortical blindness; died |  |
| 7 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-III6 | Fam | M | N | Y | A | 27 | 100% | 100% | / | / | CMT2/dHMN phenotype |  |
| 8 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-III7 | Fam | M | N | Y | A | 25 | 100% | / | 100% | / | CMT2/dHMN phenotype |  |
| 9 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-III8 | Fam | M | Y | Y | A | 21 | 100% | / | / | / | Recurrent falls; foot drop; CMT2/dHMN phenotype |  |
| 10 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-IV1 | Fam | M | N | Y | D | 9 | 100% | / | / | / | Severe neurologic disease; died |  |
| 11 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-IV2 | Fam | F | N | Y | A | 11 | / | 100% | / | / | CMT2/dHMN phenotype |  |
| 12 | 9185 | m.9185T\>C | T9185C\-F6 | T9185C\-F6\-I1 | Uninf | F | N | ND | A | 80 | 88% | / | / | / | Phenotype unknown in Figure 1; target m.9185T\>C mutant load shown |  |

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