- Tytuł:
-
A novel mitochondrial
m.4414T >C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy - Autorzy:
- Temat:
-
Mitochondrial disease
Chronic progressive external ophthalmoplegia
Myopathy
mtDNA variantm.4414T >C
MTTM
MUTATION
ASSAY
Genetics(clinical)
Clinical Neurology
Neurology
Pediatrics, Perinatology, and Child Health
medicine.disease
medicine
Molecular biology
External ophthalmoplegia
Biology
medicine.symptom
Skeletal muscle
medicine.anatomical_structure
Mitochondrial myopathy
Cytochromec oxidase
biology.protein
Muscle biopsy
medicine.diagnostic_test - Źródło:
-
Neuromuscular Disorders, 29(9), 693-697
Neuromuscular Disorders, 29(9), 693-697. Elsevier Science - Opis pliku:
- application/pdf
- Dostępność:
-
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75d2c41ec99cbbf17160e591d748a6cc
http://hdl.handle.net/1765/120465