T13376C-F1

**Figure 1\. Pedigree diagram for family T13376C\-F1\.**

![](/media/202607/T13376C-F1-pedigree_20260701013939248997.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 | 13376 | m.13376T\>C | T13376C\-F1 | Japan | MELAS | 0 | 1 | 2020 | [31689606](https://pubmed.ncbi.nlm.nih.gov/31689606/) | Japanese MELAS m.13376T\>C family; pages 1,3; Japan; Japanese MELAS case report. |

The **m.13376T\>C** variant in MT\-ND5 was reported in family T13376C\-F1 from Japan with melas. The pedigree record reported 0 unaffected and 1 affected maternal relatives, and the carrier table includes 2 listed carriers. Homoplasmy was reported in all listed carriers; 2/2 carriers were affected, and the main clinical manifestation among affected carriers was melas with recurrent headache, diabetes, seizure, stroke\-like episode, exercise\-induced lactic acidosis, medial temporal lobe atrophy, short stature, recurrent headaches.

# 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 | 13376 | m.13376T\>C | T13376C\-F1 | T13376C\-F1\-II1 | Fam | F | Y | Y | A | 25 years | Homo | 99\.9% | / | 99\.9%(H) | MELAS with recurrent headache; diabetes; seizure/stroke\-like episode; exercise\-induced lactic acidosis; medial temporal lobe atrophy | pages 1,3; Source: proband; Ragged\-red fibers. |
| 2 | 13376 | m.13376T\>C | T13376C\-F1 | T13376C\-F1\-I2 | Fam | F | N | Y | A | 52 years | Homo | / | / | 99\.9%(H) | Short stature, recurrent headaches, elevated lactate after exercise, normal neurological exam/MRI. | pages 1,3; Source: mother |

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