Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

Neurology

Volumn 89, Issue 7, 2017, Pages 657-664

  Schorling, David C ^a   Rost, Simone ^b   Lefeber, DIrk J ^c   Brady, Lauren ^e   Müller, Clemens R ^b   Korinthenberg, Rudolf ^a   Tarnopolsky, Mark ^e   Bönnemann, Carsten G ^f   Rodenburg, Richard J ^d   Bugiani, Marianna ^g   Beytia, Maria ^a,b   Krüger, Marcus ^a   Van Der Knaap, Marjo ^g,h   Kirschner, Jan ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c RADBOUD UNIVERSITY   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e MCMASTER CHILDREN S HOSPITAL   (Canada)

^f NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^g VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^h VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLGLUCOSAMINYLTRANSFERASE;

ATROPHY; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; DEGENERATIVE DISEASE; EPILEPSY; FATALITY; FEMALE; GENETICS; HUMAN; INFANT; MALE; MUSCLE WEAKNESS; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; SYNDROME;

ATROPHY; CEREBRUM; CONGENITAL DISORDERS OF GLYCOSYLATION; EPILEPSY; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MALE; MUSCLE WEAKNESS; N-ACETYLGLUCOSAMINYLTRANSFERASES; NEURODEGENERATIVE DISEASES; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 85027506334     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000004234     Document Type: Article

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