Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Hoffmann, Katrin

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. [electronic resource] - American journal of human genetics Aug 2006 - 303-12 p. digital

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

0002-9297

10.1086/506257 doi


Amino Acid Sequence
Animals
Arthrogryposis--embryology
Child
Female
Humans
Mice
Molecular Sequence Data
Myasthenic Syndromes, Congenital--embryology
Neuromuscular Junction--embryology
Pedigree
Pregnancy
Protein Subunits--genetics
Receptors, Cholinergic--genetics