DOK7 Mutation a Cause of Congenital Myasthenia

Mutations in the DOK7 gene, which affects acetylcholine receptors at the neuromuscular synapse, cause a myasthenic syndrome with limited ocular-muscle involvement.

Congenital myasthenic syndromes are genetic disorders caused by mutations in genes critical for effective neuromuscular transmission; most commonly, these mutations involve the acetylcholine receptor subunit genes. Using the Oxford University records bank, these researchers identified 15 patients with mutations in DOK7, a gene responsible for clustering of acetylcholine receptors at the postsynaptic surface of the neuromuscular junction, and examined these patients to determine the syndrome’s clinical characteristics.

These individuals have a distinct phenotype of weakness in a limb-girdle distribution, with some ptosis but with eye movements largely spared — a pattern that differs from that of typical neuromuscular transmission disorders, w…

Reviewing Author

Henry J. Kaminski, MD