T9185C-F32

**Figure 1\. Pedigree diagram for family T9185C\-F32\.**

![](/media/202607/T9185C-F32-pedigree_20260701005209906103.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\-F32 | Portugal | Motor neuron syndrome; mitochondrial encephalopathy; Leigh syndrome family history | 0 | 6 | 2014 | [25548692](https://pubmed.ncbi.nlm.nih.gov/25548692/) |  |

The **m.9185T\>C** variant in MT\-ATP6 was reported in family T9185C\-F32 from Portugal with motor neuron syndrome; mitochondrial encephalopathy; leigh syndrome family history. The pedigree record reported 0 unaffected and 6 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in 0/2 listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was cognitive impairment, exercise intolerance, progressive muscle weakness, global hypotonia, proximal tetraparesis, chronic neurogenic emg, muscle biopsy suggestive of sma, mitochondriopathy.

# 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\-F32 | T9185C\-F32\-II4 | Fam | M | Y | Y | A | 33 | / | / | / | Homo(tissue NR) | Cognitive impairment; exercise intolerance; progressive muscle weakness; global hypotonia; proximal tetraparesis; chronic neurogenic EMG; muscle biopsy suggestive of SMA/mitochondriopathy; elevated lactate. |  |
| 2 | 9185 | m.9185T\>C | T9185C\-F32 | T9185C\-F32\-II5 | Fam | F | N | Y | A | 22 | / | / | / | Homo(tissue NR) | Mild cognitive impairment; ataxia; exercise intolerance; pes cavus; hammertoes; proximal muscle weakness; axonal peripheral neuropathy; cerebellar atrophy. |  |

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