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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.
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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Shaughnessy+N%22">Shaughnessy N</searchLink>; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland. Electronic address: niamh.shaughnessy@cuh.ie.<br /><searchLink fieldCode="AU" term="%22Forman+EB%22">Forman EB</searchLink>; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22O'Rourke+D%22">O'Rourke D</searchLink>; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Department of Clinical Genetics, Children's University Hospital, Temple Street, Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Lynch+B%22">Lynch B</searchLink>; Department of Paediatric Neurology and Neurophysiology, Children's University Hospital, Temple Street, Dublin, Ireland.
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  Data: <searchLink fieldCode="JN" term="%229111470%22">Neuromuscular disorders : NMD</searchLink> [Neuromuscul Disord] 2020 Jan; Vol. 30 (1), pp. 35-37. <i>Date of Electronic Publication: </i>2019 Nov 14.
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Pergamon+Press%22">Pergamon Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9111470 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1873-2364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209608966%22">09608966 </searchLink><i>NLM ISO Abbreviation: </i>Neuromuscul Disord <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.nmd.2019.11.004
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        Text: English
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      – TitleFull: 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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              Text: 2020 Jan
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