T9176C-F14

**Figure 1\. Pedigree diagram for family T9176C\-F14\.**

![](/media/202607/T9176C-F14-pedigree_20260701004437583272.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\-F14 | France | HSP\-like disorder | 0 | 5 | 2011 | [20656066](https://pubmed.ncbi.nlm.nih.gov/20656066/) |  |

The **m.9176T\>C** variant in MT\-ATP6 was reported in family T9176C\-F14 from France with hsp\-like disorder. The pedigree record reported 0 unaffected and 5 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 5/5 carriers were affected, and the main clinical manifestation among affected carriers was painful legs, mild sensory loss, axonal neuropathy, disability grade 2\., severe hsp\-like disorder, wheelchair\-bound, spasticity, weakness.

# 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\-F14 | T9176C\-F14\-III3 | Fam | F | N | Y | A | 59 | Homo | Homo | Homo | F Homo | Painful legs; mild sensory loss; axonal neuropathy; disability grade 2\. |  |
| 2 | 9176 | m.9176T\>C | T9176C\-F14 | T9176C\-F14\-III5 | Fam | M | N | Y | A | 56 | Homo | Homo | Homo | F Homo | Severe HSP\-like disorder; wheelchair\-bound; spasticity; weakness; pain; axonal neuropathy; diabetes; cardiomyopathy; arrhythmia; cerebellar syndrome. |  |
| 3 | 9176 | m.9176T\>C | T9176C\-F14 | T9176C\-F14\-III7 | Fam | F | N | Y | A | 49 | Homo | Homo | Homo | F Homo | Gait impairment; stiffness; painful legs; pyramidal syndrome; reduced vibration sense; disability grade 3\. |  |
| 4 | 9176 | m.9176T\>C | T9176C\-F14 | T9176C\-F14\-III8 | Fam | M | Y | Y | A | 48 | Homo | Homo | Homo | F Homo | Proband; wheelchair\-bound spastic paraplegia; hyperreflexia; pain; axonal neuropathy; disability grade 4\. |  |
| 5 | 9176 | m.9176T\>C | T9176C\-F14 | T9176C\-F14\-III9 | Fam | F | N | Y | A | 38 | Homo | Homo | Homo | F Homo | Lower\-limb spasticity after exercise; pain; reduced vibration sense; disability grade 1\. |  |

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