T13271C-F1

**Figure 1\. Pedigree diagram for family T13271C\-F1\.**

![](/media/202607/T13271C-F1-pedigree_20260701013925287917.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 | 13271 | m.13271T\>C | T13271C\-F1 | Norway | Exercise intolerance | 4 | 0 | 2008 | [18396045](https://pubmed.ncbi.nlm.nih.gov/18396045/) | Norwegian family; Table 1 and text.; Norway; Norwegian family and clinical/laboratory setting. |

The **m.13271T\>C** variant in MT\-ND5 was reported in family T13271C\-F1 from Norway with exercise intolerance. The pedigree record reported 4 unaffected and 0 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in 0/5 listed carriers; 1/5 carriers were affected, and the main clinical manifestation among affected carriers was exercise\-related dyspnea and muscle pain.

# 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 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II1 | Fam | F | Y | Y | A | 27 y; onset 8 y | 7\.2% | 76\.6% | 16\.8% | / | Exercise\-related dyspnea and muscle pain | Clinical description and Table 1\.; Source: Index patient; Elevated lactate; ragged\-brown fibers; reduced complex I. |
| 2 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-I2 | Fam | F | N | N | A | ND | 2\.66% | 2\.4% | 1\.95% | / | Healthy | Table 1 and family description.; Source: Mother; No neuromuscular symptoms. |
| 3 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II2 | Fam | ND | N | N | A | 23 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. One of three younger siblings. |
| 4 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II3 | Fam | ND | N | N | A | 18 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. One of three younger siblings. |
| 5 | 13271 | m.13271T\>C | T13271C\-F1 | T13271C\-F1\-II4 | Fam | ND | N | N | A | 10 | / | / | / | / | Healthy | No molecular testing in child; included because mother has confirmed mutation load and child phenotype is explicitly reported. One of three younger siblings. |

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