Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

Neuromuscular Disorders

Volumn 26, Issue 2, 2016, Pages 153-159

  Natera de Benito, D ^a   Bestue M ^b   Vilchez, J J ^c   Evangelista, T ^d   Topf A ^d   Garcia Ribes A ^e   Trujillo Tiebas, M J ^f   Garcia Hoyos M ^g   Ortez, C ^h   Camacho, A ⁱ   Jimenez E ^j   Dusl, M ^k   Abicht, A ^k,l   Lochmuller H ^d   Colomer, J ^h   Nascimento, A ^h  

^a HOSPITAL UNIVERSITARIO DE FUENLABRADA   (Spain)

^b HOSPITAL SAN JORGE   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e HOSPITAL DE CRUCES   (Spain)

^f HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^g Instituto de Medicina Genómica   (Spain)

^h HOSPITAL SANT JOAN DE DÉU   (Spain)

ⁱ HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^j HOSPITAL UNIVERSITARIO REY JUAN CARLOS   (Spain)

^k LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^l Medical Genetic Center   (Germany)

more..

Author keywords

3,4 diaminopyridine; Congenital myasthenia; Congenital myasthenic syndrome; Neuromuscular junction; Pyridostigmine; Rapsyn

Indexed keywords

AMIFAMPRIDINE; EPHEDRINE; PYRIDOSTIGMINE; RAPSYN; 3,4-DIAMINOPYRIDINE; CHOLINESTERASE INHIBITOR; FAMPRIDINE; MUSCLE PROTEIN; PERIPHERAL MEMBRANE PROTEIN 43K; POTASSIUM CHANNEL BLOCKING AGENT;

ADOLESCENT; ADULT; ARTHROGRYPOSIS; ARTICLE; BULBAR PARALYSIS; CHILD; CIRCUMORAL PARESTHESIA; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; DIARRHEA; DIPLOPIA; DISEASE EXACERBATION; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; DYSPHAGIA; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE MUTATION; HAND PARESTHESIA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFECTION; MALE; MIDDLE AGED; MISSENSE MUTATION; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOPLEGIA; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RAPSYN GENE; RESPIRATORY FAILURE; SCHOOL CHILD; STRABISMUS; URINE INCONTINENCE; YOUNG ADULT; ANALOGS AND DERIVATIVES; DISEASE COURSE; GENETICS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PATHOPHYSIOLOGY; PHENOTYPE;

4-AMINOPYRIDINE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHOLINESTERASE INHIBITORS; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE; POTASSIUM CHANNEL BLOCKERS; PYRIDOSTIGMINE BROMIDE; YOUNG ADULT;

EID: 84956910684     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2015.10.013     Document Type: Article

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