X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.
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| Title: | X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. |
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| Authors: | Shaughnessy N; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. Electronic address: niamh.shaughnessy@cuh.ie., Forman EB; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland., O'Rourke D; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland., Lynch SA; Department of Clinical Genetics, Children's University Hospital, Temple Street, Dublin, Ireland., Lynch B; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. |
| Source: | Neuromuscular disorders : NMD [Neuromuscul Disord] 2020 Jan; Vol. 30 (1), pp. 35-37. Date of Electronic Publication: 2019 Nov 14. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 1873-2364 |
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| DOI: | 10.1016/j.nmd.2019.11.004 |
