G5521A-F1

Figure 1\. Pedigree diagram for family G5521A\-F1\.
# Pedigree InformationFigure 1\. Pedigree diagram for family G5521A\-F1\.

![](/media/202607/G5521A-F1-pedigree_20260701032422138446.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 | 5521 | M.5521G\>A | G5521A\-F1 | Italy | Late\-onset mitochondrial myopathy | 5 | 2 | 1998 | [9673981](https://pubmed.ncbi.nlm.nih.gov/9673981/) |  |

The **m.5521G\>A** variant in MT\-TW was reported in family G5521A\-F1 from Italy with late\-onset mitochondrial myopathy. The supplied pedigree records 5 unaffected and 2 affected maternal relatives, and the carrier table includes 1 listed carrier. The proband corresponds to pedigree individual II\-7\. The reported carrier was affected and had 0% blood mutant load and 98% muscle mutant load.

# 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 | 5521 | M.5521G\>A | G5521A\-F1 | G5521A\-F1\-II7 | Fam | M | Y | Y | A | 68 | 0 | 98% | / | / | Late\-onset mitochondrial myopathy |  |

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

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5521 | M.5521G\>A | G5521A\-F1 | Italy | Late\-onset mitochondrial myopathy | 5 | 2 | 1998 | [9673981](https://pubmed.ncbi.nlm.nih.gov/9673981/) |  |

The **m.5521G\>A** variant in MT\-TW was reported in family G5521A\-F1 from Italy with late\-onset mitochondrial myopathy. The supplied pedigree records 5 unaffected and 2 affected maternal relatives, and the carrier table includes 1 listed carrier. The proband corresponds to pedigree individual II\-7\. The reported carrier was affected and had 0% blood mutant load and 98% muscle mutant load.

# 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 | 5521 | M.5521G\>A | G5521A\-F1 | G5521A\-F1\-II7 | Fam | M | Y | Y | A | 68 | 0 | 98% | / | / | Late\-onset mitochondrial myopathy |  |

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