A novel DOK7 mutation causing limb-girdle congenital myasthenic syndrome

Authors

  • Adam S. Reynolds, MD Department of Neurology, University of Washington Medical Center, Seattle, Washington
  • Ava Y. Lin, MD, PhD Department of Neurology, University of Washington Medical Center, Seattle, Washington https://orcid.org/0000-0001-9399-9076
  • Leo H. Wang, MD, PhD Department of Neurology, University of Washington Medical Center, Seattle, Washington https://orcid.org/0000-0002-5079-1416

DOI:

https://doi.org/10.17161/rrnmf.v3i4.18087

Keywords:

Congenital myasthenia gravis, Limb-girdle weakness, Downstream of tyrosine kinase 7 (DOK7)

Abstract

We report a case series of 5 Latino patients with limb-girdle pattern weakness, four patients are sisters, with one patient unrelated. Repetitive nerve stimulation showed a significant decrement in all cases. Targeted genetic testing for congenital myasthenic syndromes demonstrated a known DOK7 pathogenic mutation in each case, and in all five cases also revealed a novel DOK7 missense mutation in exon 7 with c.94G>A; providing strong evidence this mutation is pathogenic. DOK7-related congenital myasthenic syndrome often lacks oculobulbar involvement, and may present with limb-girdle weakness, mimicking limb-girdle muscular dystrophy.

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Published

2023-02-07

Issue

Vol. 4 No. 1 (2023)

Section

Clinic Stuff (Case Reports)

License

Copyright (c) 2023 Adam S. Reynolds MD, Ava Y. Lin MD, Leo H. Wang MD PhD

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

How to Cite

Reynolds, A., Lin, A., & Wang, L. . (2023). A novel DOK7 mutation causing limb-girdle congenital myasthenic syndrome. RRNMF Neuromuscular Journal, 4(1), 27-31. https://doi.org/10.17161/rrnmf.v3i4.18087