Abundant electrical myotonia and left ventricular noncompaction: Unusual features of Danon disease due to a novel mutation in LAMP2 gene

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Bibliographic Details
Published in:Revue neurologique 2019-03, Vol.175 (3), p.201-203
Main Authors: Codron, P., Pautot, V., Tassin, A., Sternberg, D., Letournel, F., Richard, P., Nadaj-Pakleza, A.
Format: Article
Language:English
Subjects:
Cardiology and cardiovascular system
Glycogen Storage Disease Type IIb - complications
Glycogen Storage Disease Type IIb - diagnosis
Glycogen Storage Disease Type IIb - genetics
Glycogen Storage Disease Type IIb - physiopathology
Human health and pathology
Humans
Isolated Noncompaction of the Ventricular Myocardium - complications
Isolated Noncompaction of the Ventricular Myocardium - diagnosis
Isolated Noncompaction of the Ventricular Myocardium - genetics
Life Sciences
Lysosomal-Associated Membrane Protein 2 - genetics
Male
Mutation
Myotonia - complications
Myotonia - diagnosis
Myotonia - genetics
Neurons and Cognition
Pedigree
Phenotype
Young Adult
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ISSN:0035-3787
DOI:10.1016/j.neurol.2018.04.012