Congenital Myasthenic Syndrome with Agrin Mutations
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a distal myopathy.
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Pediatric Neurology Briefs Publishers,
2014-10-01T00:00:00Z.
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042 | |a dc | ||
100 | 1 | 0 | |a J Gordon Millichap |e author |
700 | 1 | 0 | |a John J Millichap |e author |
245 | 0 | 0 | |a Congenital Myasthenic Syndrome with Agrin Mutations |
260 | |b Pediatric Neurology Briefs Publishers, |c 2014-10-01T00:00:00Z. | ||
500 | |a 1043-3155 | ||
500 | |a 2166-6482 | ||
500 | |a 10.15844/pedneurbriefs-28-10-5 | ||
520 | |a Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a distal myopathy. | ||
546 | |a EN | ||
690 | |a neurology | ||
690 | |a pediatrics | ||
690 | |a child development | ||
690 | |a nervous system diseases | ||
690 | |a brain diseases | ||
690 | |a Pediatrics | ||
690 | |a RJ1-570 | ||
690 | |a Neurology. Diseases of the nervous system | ||
690 | |a RC346-429 | ||
655 | 7 | |a article |2 local | |
786 | 0 | |n Pediatric Neurology Briefs, Vol 28, Iss 10, Pp 77-78 (2014) | |
787 | 0 | |n https://www.pediatricneurologybriefs.com/articles/81 | |
787 | 0 | |n https://doaj.org/toc/1043-3155 | |
787 | 0 | |n https://doaj.org/toc/2166-6482 | |
856 | 4 | 1 | |u https://doaj.org/article/c8993305ca19421f90f3eb81316f3b03 |z Connect to this object online. |