T9176C-F15

**Figure 1\. Pedigree diagram for family T9176C\-F15\.**

![](/media/202607/T9176C-F15-pedigree_20260701004458221946.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 | 9176 | m.9176T\>C | T9176C\-F15 | Germany | Charcot\-Marie\-Tooth hereditary neuropathy | 0 | 2 | 2012 | [22971232](https://pubmed.ncbi.nlm.nih.gov/22971232/) |  |

The **m.9176T\>C** variant in MT\-ATP6 was reported in family T9176C\-F15 from Germany with charcot\-marie\-tooth hereditary neuropathy. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 2/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was mild high\-arched feet, reduced vibration sense, absent achilles reflexes, severe chronic motor and sensory axonal neuropathy, arrhythmia, cataract, diabetes., index patient.

# 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 | 9176 | m.9176T\>C | T9176C\-F15 | T9176C\-F15\-II5 | Fam | F | N | Y | A | 73 | \+ | / | / | / | Mild high\-arched feet; reduced vibration sense; absent Achilles reflexes; severe chronic motor and sensory axonal neuropathy; arrhythmia; cataract; diabetes. |  |
| 2 | 9176 | m.9176T\>C | T9176C\-F15 | T9176C\-F15\-III1 | Fam | F | Y | Y | A | 49 | Homo | Homo | / | / | Index patient; CMT2\-like axonal neuropathy; pes cavus; gait unsteadiness; distal weakness/atrophy; paraesthesia; mild cerebellar atrophy. |  |
| 3 | 9176 | m.9176T\>C | T9176C\-F15 | T9176C\-F15\-IV1 | Fam | F | N | Y | A | 24 | Homo | / | / | / | Similar axonal CMT phenotype; pes cavus; claw toes; gait unsteadiness; reduced vibration sense. |  |

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