Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.

Stum, Morgane

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia. [electronic resource] - Human molecular genetics Oct 2008 - 3166-79 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddn213 doi


Acetylcholinesterase--deficiency
Alleles
Animals
Disease Models, Animal
Electromyography
Female
Gene Dosage
Heparan Sulfate Proteoglycans--deficiency
Humans
Isaacs Syndrome--enzymology
Male
Mice
Mice, Inbred C57BL
Mice, Mutant Strains
Mice, Transgenic
Motor Endplate--enzymology
Muscle Contraction--genetics
Mutation, Missense
Osteochondrodysplasias--enzymology
Phenotype