Term Name:	congenital myasthenic syndrome 10
Synonyms:	CMS10, CMS1B, LGM
Definition:	A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p.
Ontology:	Human Disease [DOID:0110668]   (DOID:0110668)