DISEASES

Disease-gene associations mined from literature

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 ...