Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

Journal of Medical Genetics

Volumn 46, Issue 3, 2009, Pages 203-208

  Maselli, R A ^a   Ng, J J ^a   Anderson, J A ^a   Cagney, O ^a   Arredondo, J ^a   Williams, C ^a   Wessel, H B ^b   Abdel Hamid, H ^b   Wollmann, R L ^c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCHOLINESTERASE; CHOLINESTERASE INHIBITOR; EPHEDRINE;

ADULT; ALLELE; ANAMNESIS; ANCONEUS MUSCLE; ARTICLE; CASE REPORT; CELL INVASION; CLINICAL FEATURE; CONGENITAL MYASTHENIC SYNDROME; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTROMYOGRAM; ELECTRON MICROSCOPY; ENDPLATE POTENTIAL; ENZYME INHIBITION; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KIDNEY BIOPSY; KIDNEY GRAFT; KIDNEY PARENCHYMA; LAMININ BETA2 GENE; MUSCLE; MUSCLE BIOPSY; MUSCLE TISSUE; MUTATIONAL ANALYSIS; MUTATOR GENE; NERVE ENDING; NEUROMUSCULAR SYNAPSE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTOSIS; SCHWANN CELL; WESTERN BLOTTING;

DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; FEMALE; HUMANS; LAMININ; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; NEUROMUSCULAR JUNCTION; YOUNG ADULT;

MUS;

EID: 62149126975     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.063693     Document Type: Article

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