congenital myasthenic syndrome 10

Term ID

DOID:0110668

Synonyms

• CMS10
• CMS1B
• congenital muscular dystrophy merosin-positive
• LGM

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. (3)

References

• MIM:254300

Ontology

Human Disease   ( DOID:0110668 )