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
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