Visualize
Metadata
DOID DOID:0110671
Name congenital myasthenic syndrome 6
Definition A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q.
https://www.ncbi.nlm.nih.gov/pubmed/11172068, https://www.ncbi.nlm.nih.gov/pubmed/12756141, https://www.ncbi.nlm.nih.gov/pubmed/25792100
Synonyms

CMS Ia2 [EXACT]

CMS1A2 [EXACT]

CMS6 [EXACT]

CMSEA [EXACT]

congenital myasthenic syndrome 6, presynaptic [EXACT]

congenital myasthenic syndrome type Ia2 [EXACT]

congenital presynaptic myasthenic syndrome associated with episodic apnea [EXACT]

familial infantile myasthenia [EXACT]

familial infantile myasthenia gravis 2 [EXACT]

FIM [EXACT]

FIMG2 [EXACT]

Xrefs

OMIM:254210

Relationships

is_a congenital myasthenic syndrome

Add an item to the term tracker