G11832A

# **General Information**

| **Position** | **11832** | **Variant** | **m.11832G\>A** | **Locus** | **MT\-ND4** | **Amino\-AcidChange** | **W358Term** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **APOGEE2** | NA | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.11832G\>A** variant in MT\-ND4 has been reported in 3 pedigrees. To date, 3 carriers have been reported. Reported mutation loads ranged from 0% to 54%, with a median of 31% overall; affected carriers showed mutation loads from 0% to 54%, with a median of 31%. In one affected carrier, the mutation was undetectable in blood (0%) but exceeded 20% in muscle (54%). The main clinical manifestations among affected carriers included lifelong exercise intolerance, pure exercise intolerance, severe exercise intolerance, dyspnea, premature fatigue and myalgia, and pure myopathy without fixed weakness.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 11832 | m.11832G\>A | G11832A\-F1 | United States | Mitochondrial myopathy; exercise intolerance; isolated complex I deficiency | ND | ND | 1999 | [10360780](https://pubmed.ncbi.nlm.nih.gov/10360780/) |  |
| 2 | 11832 | m.11832G\>A | G11832A\-F2 | United States | Mitochondrial myopathy | ND | ND | 2001 | [11506394](https://pubmed.ncbi.nlm.nih.gov/11506394/) |  |
| 3 | 11832 | m.11832G\>A | G11832A\-F3 | United States | Mitochondrial myopathy; exercise intolerance | ND | ND | 2002 | [11782982](https://pubmed.ncbi.nlm.nih.gov/11782982/) |  |

# **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 | 11832 | m.11832G\>A | G11832A\-F1 | G11832A\-F1\-P1 | Uninf | M | Y | Y | ND | 38 | 0 | 54% | / | / | Lifelong exercise intolerance; premature fatigue and myalgia; pure myopathy without fixed weakness |  |
| 2 | 11832 | m.11832G\>A | G11832A\-F2 | G11832A\-F2\-P1 | Uninf | M | Y | Y | ND | 38 | / | 31%(skeletal muscle pretraining); 43%(skeletal muscle posttraining) | / | / | Severe exercise intolerance; dyspnea |  |
| 3 | 11832 | m.11832G\>A | G11832A\-F3 | G11832A\-F3\-P1 | Uninf | M | Y | Y | A | 38 | / | 31% | / | / | Pure exercise intolerance | Original carrier identifier: Patient SL |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).