Clinical Reasoning: A child with arthrogryposis: Congenital myasthenic syndrome- CHRNA1 mutation

Neurology. 2018 Sep 4;91(10):e995-e998. doi: 10.1212/WNL.0000000000006126.

Authors

Obehioya Irumudomon¹, Partha S Ghosh²

Affiliations

¹ From the Department of Neurology (O.I.), Lahey Clinic, Burlington; and Department of Neurology (O.I., P.S.G.), Boston Children's Hospital, MA.
² From the Department of Neurology (O.I.), Lahey Clinic, Burlington; and Department of Neurology (O.I., P.S.G.), Boston Children's Hospital, MA. [email protected].

PMID: 30177536
DOI: 10.1212/WNL.0000000000006126

No abstract available

Publication types

Case Reports

MeSH terms

Arthrogryposis / diagnosis
Arthrogryposis / genetics*
Arthrogryposis / physiopathology
Child, Preschool
Electromyography
Female
Humans
Mutation / genetics*
Myasthenic Syndromes, Congenital / genetics
Receptors, Nicotinic / genetics*
Succinate-CoA Ligases / genetics*

Substances

CHRNA1 protein, human
Receptors, Nicotinic
SUCLG1 protein, human
Succinate-CoA Ligases