Identification of pathogenic mutations in the human rapsyn gene

Journal of Human Genetics

Volumn 48, Issue 4, 2003, Pages 204-207

  Dunne, Vanessa ^b   Maselli, Ricardo A ^a,b  

^a University of California ^*  (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Acetylcholine receptor clustering; Congenital myasthenic syndrome; Endplate; Postsynaptic; Rapsyn

Indexed keywords

BETA DYSTROGLYCAN; CHOLINERGIC RECEPTOR; DYSTROGLYCAN; RAPSYN; UNCLASSIFIED DRUG; UTROPHIN;

ADULT; ARTICLE; CASE REPORT; CONGENITAL MYASTHENIC SYNDROME; EATON LAMBERT SYNDROME; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MICROELECTRODE; NERVE ENDING; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; POSTSYNAPTIC POTENTIAL; PRESCHOOL CHILD; PROTEIN STRUCTURE; RESTRICTION MAPPING;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUSCLE PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; RESTRICTION MAPPING;

EID: 0038584915     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0005-7     Document Type: Article

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