Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Brain

Volumn 137, Issue 9, 2014, Pages 2429-2443

  Nicole, Sophie ^a,b,c   Chaouch, Amina ^d   Torbergsen, Torberg ^e   Bauché, Stéphanie ^a,b,c   De Bruyckere, Elodie ^a,b,c   Fontenille, Marie Joséphine ^a,b,c   Horn, Morten A ^f   Van Ghelue, Marijke ^e   Løseth, Sissel ^e   Issop, Yasmin ^d   Cox, Daniel ^d   Müller, Juliane S ^d   Evangelista, Teresinha ^d   Stålberg, Erik ^g   Ioos, Christine ^h   Barois, Annie ^h   Brochier, Guy ⁱ   Sternberg, Damien ^a,b,c,i   Fournier, Emmanuel ^a,b,c,i   Hantaï, Daniel ^a,b,c,i   Abicht, Angela ^j   Dusl, Marina ^j   Laval, Steven H ^d   Griffin, Helen ^d   Eymard, Bruno ^a,b,c,i   Lochmüller, Hanns ^d   more..

^a INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^b CNRS   (France)

^c ICM   (France)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^f OSLO UNIVERSITY HOSPITAL   (Norway)

^g UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^h RAYMOND POINCARÉ HOSPITAL   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

more..

Author keywords

Agrin; Congenital myasthenic syndrome; Distal myopathy; Neuromuscular junction; Presynaptic

Indexed keywords

3,4 DIAMINOPYRIDINE; AGRIN; CHOLINERGIC RECEPTOR; EPHEDRINE; PROTEOGLYCAN; PYRIDOSTIGMINE; SALBUTAMOL;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; DISTAL MYOPATHY; DRUG TREATMENT FAILURE; EXERCISE; EXOME; FEMALE; GENE SEQUENCE; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IN VITRO STUDY; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE DENERVATION; MUSCLE REINNERVATION; MUSCLE WEAKNESS; MUTATION; NERVE STIMULATION; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

AGRIN; CONGENITAL MYASTHENIC SYNDROME; DISTAL MYOPATHY; NEUROMUSCULAR JUNCTION; PRESYNAPTIC;

ADULT; AGRIN; AMINO ACID SEQUENCE; ATROPHY; FEMALE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE WEAKNESS; MUSCULAR ATROPHY; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE;

EID: 84906674924     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu160     Document Type: Article

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