Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family
Corresponding Author
P. Bogdanova-Mihaylova
Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Correspondence:
P. Bogdanova-Mihaylova, Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Tallaght, Dublin 24, Ireland
(tel.: +353 (0) 1 414 4061; fax: +353 (0) 1 414 4067; e-mail: [email protected]).
Search for more papers by this authorR. P. J. Murphy
Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Search for more papers by this authorM. D. Alexander
Department of Clinical Neurophysiology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
Search for more papers by this authorJ. C. McHugh
Department of Clinical Neurophysiology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
Search for more papers by this authorA. Reghan Foley
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
Search for more papers by this authorF. Brett
Histopathology Department, Beaumont Hospital, Dublin, Ireland
Search for more papers by this authorS. M. Murphy
Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
Search for more papers by this authorCorresponding Author
P. Bogdanova-Mihaylova
Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Correspondence:
P. Bogdanova-Mihaylova, Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Tallaght, Dublin 24, Ireland
(tel.: +353 (0) 1 414 4061; fax: +353 (0) 1 414 4067; e-mail: [email protected]).
Search for more papers by this authorR. P. J. Murphy
Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Search for more papers by this authorM. D. Alexander
Department of Clinical Neurophysiology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
Search for more papers by this authorJ. C. McHugh
Department of Clinical Neurophysiology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
Search for more papers by this authorA. Reghan Foley
Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
Search for more papers by this authorF. Brett
Histopathology Department, Beaumont Hospital, Dublin, Ireland
Search for more papers by this authorS. M. Murphy
Department of Neurology, Adelaide and Meath Hospitals incorporating the National Children's Hospital, Dublin
Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
Search for more papers by this author
Supporting Information
| Filename | Description |
|---|---|
| ene13532-sup-0001-FigS1.docxWord document, 72.6 KB | Figure S1. Pedigree of the Irish family with DPAGT1-associated congenital myasthenic syndromes. Affected individuals are indicated in black. |
| ene13532-sup-0002-FigS2.docxWord document, 1,022.1 KB | Figure S2. Muscle biopsies of the affected siblings with DPAGT1-associated congenital myasthenic syndromes. |
| ene13532-sup-0003-TableS1.docxWord document, 17.4 KB | Table S1. Summary of previously reported cases with DPAGT1-associated congenital myasthenic syndromes. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
References
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- 3Belaya K, Finlayson S, Slater CR, et al. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum Genet 2012; 91: 193–201.
- 4Finlayson S, Palace J, Belaya K, et al. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. J Neurol Neurosurg Psychiatry 2013; 84: 1119–1125.
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