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Metadata
ID DOID:0110673
Name congenital myasthenic syndrome 19
Definition A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22.
https://www.ncbi.nlm.nih.gov/pubmed/26626625
Xrefs

OMIM:616720

Synonyms

CMS19 [EXACT]

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease

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