Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by ε-AChR subunit truncating mutations

Human Genetics

Volumn 107, Issue 2, 2000, Pages 160-164

  Sieb, Jörn P ^a   Kraner, Simone ^a   Rauch, Michael ^c   Steinlein, Ortrud K ^b  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY OF BONN   (Germany)

^c Gilead Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; PYRIDOSTIGMINE; UTROPHIN;

ADULT; ARTICLE; CELL JUNCTION; CLINICAL ARTICLE; CONTROLLED STUDY; EATON LAMBERT SYNDROME; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; IMMATURITY; IMMUNOHISTOCHEMISTRY; MUSCLE WEAKNESS; NERVE ENDING; NEUROMUSCULAR JUNCTION DISORDER; NEUROMUSCULAR SYNAPSE; ONTOGENY; OPHTHALMOPLEGIA; POSTSYNAPTIC MEMBRANE; PRIORITY JOURNAL; PTOSIS;

EID: 0033817038     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000359     Document Type: Article

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