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Article

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.

Annals of the New York Academy of Sciences - 13 May 1998

Milone M, Ohno K, Fukudome T, Shen X M, Brengman J, Griggs R C, Engel A G

Abstract excerpt

No abstract is available from the source.

Topics

Amino Acid Sequence
Evoked Potentials
Exons
Female
Humans
Macromolecular Substances
Male
Motor Endplate
Muscle Fibers, Skeletal
Muscle, Skeletal
Mutation
Myasthenia Gravis
Nuclear Family
Patch-Clamp Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Receptors, Cholinergic

Source

Identifiers

PMID: 9668237
DOI: 10.1111/j.1749-6632.1998.tb10925.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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