Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Journal of Neurology

Volumn 259, Issue 5, 2012, Pages 838-850

  Guergueltcheva, Velina ^a,b   Müller, Juliane S ^c   Dusl, Marina ^l   Senderek, Jan ^d   Oldfors, Anders ^e   Lindbergh, Christopher ^f   Maxwell, Susan ^g   Colomer, Jaume ^h   Mallebrera, Cecilia Jimenez ^h   Nascimento, Andres ^h   Vilchez, Juan J ⁱ   Muelas, Nuria ⁱ   Kirschner, Janbernd ^j   Nafissi, Shahriar ^k   Kariminejad, Ariana ^l   Nilipour, Yalda ^l   Bozorgmehr, Bita ^l   Najmabadi, Hossein ^l   Rodolico, Carmelo ^l   Sieb, Jörn P ^l   Schlotter, Beate ^l   Schoser, Benedikt ^l   Herrmann, Ralf ^l   Voit, Thomas ^l   Steinlein, Ortrud K ^l   Najafi, Abdolhamid ^l   Urtizberea, Andoni ^l   Soler, Doriette M ^l   Muntoni, Francesco ^l   Hanna, Michael G ^l   Chaouch, Amina ^c   Straub, Volker ^c   Bushby, Kate ^c   Palace, Jacqueline ^a   Beeson, David ^a   Abicht, Angela ^a   Lochmüller, Hanns ^c   more..

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d RWTH AACHEN UNIVERSITY   (Germany)

^e UNIVERSITY OF GOTHENBURG   (Sweden)

^f SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^g UNIVERSITY OF OXFORD   (United Kingdom)

^h HOSPITAL SANT JOAN DE DÉU   (Spain)

ⁱ HOSPITAL UNIVERSITARIO LA FE   (Spain)

^j UNIVERSITY OF FREIBURG   (Germany)

^k TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^l NONE

more..

Author keywords

Congenital myasthenic syndromes; Dok 7; GFPT1; Limb girdle myasthenia; Tubular aggregates

Indexed keywords

CHOLINESTERASE INHIBITOR; GLUTAMINE FRUCTOSE 6 PHOSPHATE AMINOTRANSFERASE; GLUTAMINE FRUCTOSE 6 PHOSPHATE TRANSAMINASE 1; UNCLASSIFIED DRUG; GFPT1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; BRAIN ELECTROPHYSIOLOGY; CHILD; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; FATIGUE; FEMALE; GENE MUTATION; HUMAN; LIMB GIRDLE CONGENITAL MYASTHENIC SYNDROME; LIMB WEAKNESS; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE WEAKNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; SCHOOL CHILD; VISUAL IMPAIRMENT; COMPLICATION; DNA MUTATIONAL ANALYSIS; GENETICS; MIDDLE AGED; MUTATION; MYOPATHY; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; GLUTAMINE-FRUCTOSE-6-PHOSPHATE TRANSAMINASE (ISOMERIZING); HUMANS; MIDDLE AGED; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; MYOPATHIES, STRUCTURAL, CONGENITAL; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84862587015     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6262-z     Document Type: Article

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