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Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide

Munot, P; Zaharieva, I; Hartley, L; Phadke, R; Sewry, C; Feng, L; Sud, R; ... Muntoni, F; + view all (2017) Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide. Presented at: 22nd International Annual Congress of the World-Muscle-Society (WMS), Saint Malo, FRANCE.

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Type: Conference item (UNSPECIFIED)
Title: Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamide
Event: 22nd International Annual Congress of the World-Muscle-Society (WMS)
Location: Saint Malo, FRANCE
Dates: 03 October 2017 - 07 October 2017
DOI: 10.1016/j.nmd.2017.06.333
Keywords: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/10035092
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