Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes

Human Heredity

Volumn 48, Issue 6, 1998, Pages 325-332

  Menold, Marisa M ^a   Sadeh, Menachem ^b   Lennon, Felicia ^a   Blatt, Ilan ^c   Goldhammer, Yochanan ^c   Yamaoka, Larry H ^a   Vance, Jeffery M ^a   Pericak Vance, Margaret A ^a,d  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b WOLFSON MEDICAL CENTER   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

^d DUKE UNIVERSITY   (United States)

Author keywords

Acetylcholine receptor subunits; Chromosome 17; Chromosome 2; Congenital myasthenic syndromes; Familial infantile myasthenia

Indexed keywords

CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT;

ARTICLE; CHROMOSOME 17; CHROMOSOME 17P; CHROMOSOME 2; CLINICAL ARTICLE; CONSANGUINITY; EATON LAMBERT SYNDROME; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; NEUROMUSCULAR TRANSMISSION; SYMPTOM;

FEMALE; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; NEUROMUSCULAR DISEASES; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0031793252     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000022824     Document Type: Article

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