Congenital myasthenic syndrome with episodic apnea
Other Names for this Disease
- Cerebrofacial arteriovenous metameric syndrome type 1
- Congenital myasthenic syndrome type 1a
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Congenital myasthenic syndrome with episodic apnea. We will answer your question and update these pages with new resources and information.
- The MayoClinic Web site provides further information on congenital myasthenic syndromes. Click on MayoClinic to view the information page.
- The Muscular Dystrophy Association provides further information on congenital myasthenic syndromes. Click on Muscular Dystrophy Association to view this information page.
- Genetics Home Reference (GHR) contains information on Congenital myasthenic syndrome with episodic apnea. This website is maintained by the National Library of Medicine.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital myasthenic syndrome with episodic apnea. Click on the link to view a sample search on this topic.
- Engel AG. The therapy of congenital myasthenic syndromes. Neurotherapeutics. 2007 Apr;4(2):252-7.