25 November 2020: Articles
Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G
Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)
Josef Finsterer A* , Franco Laccone BDOI: 10.12659/AJCR.927938
Am J Case Rep 2020; 21:e927938
Table 1. Phenotypic manifestations in 13 clinically affected family members. Five of them carried the m.3243A>G variant.
| Phenotypic manifestation | III/3 | III/2 | III/1 | II/1 | II/2 | II/3 | I/1 | IV/2 | IV/1 | III/9 | III/8 | IV/6 | IV/5 |
| Gender | F | F | M | F | M | F | F | F | F | F | F | F | F |
| Age (y), age at death (y) | 60 | 53 | 67 | 80 | 81 | 87 | 91 | 32 | 25 | 32 | 75 | 45 | 35 |
| Mutation carrier | Y | Y | Y | Nt | Nt | Nt | Nt | Y | Y | Nt | Nt | Nt | Nt |
| Brain | |||||||||||||
| Cerebellar atrophy | x | x | x | x | x | ||||||||
| Cerebral atrophy | x | ||||||||||||
| Dementia | x | ||||||||||||
| Epilepsy | x | x | |||||||||||
| Eyes | |||||||||||||
| Retinal dystrophy | x | ||||||||||||
| Macula degeneration | x | x | |||||||||||
| Visual impairment | x | x | x | ||||||||||
| Ears | |||||||||||||
| Hypoacusis | x | x | x | x | x | x | x | x | x | x | x | ||
| Vestibular dysfunction | x | x | |||||||||||
| Endocrine | |||||||||||||
| Short stature | x | ||||||||||||
| Prediabetes | x | ||||||||||||
| Diabetes | x | x | x | x | |||||||||
| Thyroid dysfunction | x | x | |||||||||||
| Gestosis | x | x | |||||||||||
| Heart | |||||||||||||
| hCMP | x | x | x | ||||||||||
| Short-PQ | x | x | |||||||||||
| LAH | x | ||||||||||||
| LGE | x | ||||||||||||
| AFLU | x | ||||||||||||
| Intestines | |||||||||||||
| Hepatopathy | x | ||||||||||||
| Kidneys | |||||||||||||
| Renal failure | x | ||||||||||||
| Muscle | |||||||||||||
| Myopathy | x | x | |||||||||||
| Nerves | |||||||||||||
| Neuropathy | x | ||||||||||||
| Others | |||||||||||||
| Hyperlipidemia | x | ||||||||||||
| Carcinoma | x | ||||||||||||
| Aneurysm | x | ||||||||||||
| AFLU – atrial flutter; hCMP – hypertrophic cardiomyopathy; LAH – left anterior hemiblock; LGE – late gadolinium enhancement; Nt – not tested; * died at indicated age. | |||||||||||||