Human genes for congenital myasthenic syndrome 10
Congenital myasthenic syndrome 10 [DOID:0110668]
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.
Synonyms: congenital myasthenic syndrome 10, DOID:0110668, CMS10, familial limb-girdle myasthenia, LGM ...