| Autor: |
Ariadna González-del Angel, Michela Bisciglia, Steven Vargas-Cañas, Francisca Fernandez-Valverde, Ekaterina Kazakova, Rosa Elena Escobar, Norma B. Romero, Claude Jardel, Benoit Rucheton, Tanya Stojkovic, Edoardo Malfatti |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Frontiers in Neurology, Vol 10 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1664-2295 |
| DOI: |
10.3389/fneur.2019.01049 |
| Popis: |
Objectives: To report two novel DNA2 gene mutations causing early onset myopathy with cardiac involvement and late onset mitochondriopathy with rhabdomyolysis.Methods: We performed detailed clinical, muscle histopathology and molecular studies including mitochondrial gene NGS analysis in two patients (Patient 1 and 2), a mother and her son, belonging to a Mexican family, and a third sporadic French patient.Results: Patient 1 and 2 presented with an early onset myopathy associated with ptosis, velopharyngeal weakness, and cardiac involvement. Patient 3 presented rhabdomyolysis unmasking a mitochondrial disease characterized by a sensorineural hearing loss, ptosis, and lipomas. Muscle biopsies performed in all patients showed variable mitochondrial alterations. Patient 3 had multiple mtDNA deletion in his muscle. Genetic studies revealed a novel heterozygous frameshift mutation in DNA2 gene (c.2346delT p.Phe782Leufs*3) in P1 and P2, and a novel heterozygous missense mutation in DNA2 gene (c.578T>C p.Leu193Ser) in the P3.Conclusions: To date only few AD cases presenting either missense or truncating DNA2 variants have been reported. None of them presented with a cardiac involvement or rhabdomyolysis. Here we enlarge the genetic and phenotypic spectrum of DNA2-related mitochondrial disorders. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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