Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.
Saved in:
| Title: | Congenital-onset MLASA2 from a novel YARS2 variant: A literature review. |
|---|---|
| Authors: | Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Centro Nacional de Análisis Genómico, Barcelona, Spain., Carter MT; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., Hamilton LE; Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada., McMillan HJ; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada. |
| Source: | Journal of neuromuscular diseases [J Neuromuscul Dis] 2026 Jul; Vol. 13 (4), pp. 802-807. Date of Electronic Publication: 2025 Aug 14. |
| Publication Type: | Journal Article; Case Reports; Review |
| Journal Info: | Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 2214-3602 |
|---|---|
| DOI: | 10.1177/22143602251369227 |
