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A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.

Authors :
Perandones C
Micheli FE
Pellene LA
Bayly MA
Berkovic SF
Dibbens LM
Source :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2012 Aug; Vol. 27 (9), pp. 1200-1. Date of Electronic Publication: 2012 Jul 05.
Publication Year :
2012

Subjects

Subjects :
Adult
Audiometry, Pure-Tone
Auditory Pathways
Electroencephalography
Female
Hearing Loss genetics
Hearing Loss physiopathology
Humans
Mutation
Myoclonic Epilepsies, Progressive genetics
Myoclonic Epilepsies, Progressive physiopathology
Polymerase Chain Reaction
Hearing Loss etiology
Lysosomal Membrane Proteins genetics
Myoclonic Epilepsies, Progressive complications
Receptors, Scavenger genetics

Details

Language :
English
ISSN :
1531-8257
Volume :
27
Issue :
9
Database :
MEDLINE
Journal :
Movement disorders : official journal of the Movement Disorder Society
Publication Type :
Report
Accession number :
22767442
Full Text :
https://doi.org/10.1002/mds.25083
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