congenital myasthenic syndrome 10 (DOID:0110668)
Alliance: disease page
Synonyms: CMS10; congenital muscular dystrophy merosin-positive; familial limb-girdle myasthenia; LGM
Alt IDs: OMIM:254300
Definition: A congenital myasthenic syndrome characterized by autosomal recessive 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 4p16.3.