Variable phenotypes associated with mutations in DOK7

Muscle and Nerve

Volumn 37, Issue 4, 2008, Pages 448-456

  Anderson, Jennifer A ^a   Ng, Jarae J ^a   Bowe, Constance ^a   Mcdonald, Craig ^a   Richman, David P ^a   Wollmann, Robert L ^b   Maselli, Ricardo A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

Acetylcholine receptor aggregation; Congenital myasthenic syndromes; DOK7; Endplate; MUSK

Indexed keywords

3,4 DIAMINOPYRIDINE; DOK 7 PROTEIN; PROTEIN DERIVATIVE; PYRIDOSTIGMINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; ELECTRON MICROSCOPY; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; MALE; MORPHOMETRICS; NEUROMUSCULAR SYNAPSE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHENOTYPIC VARIATION; PHYSIOLOGY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BIOPSY; DNA MUTATIONAL ANALYSIS; EVOKED POTENTIALS, MOTOR; FEMALE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE;

EID: 41849126760     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20944     Document Type: Article

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