Congenital myasthenic syndrome (CMS): limb girdle
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): limb girdle: Pathology This is caused by mutations in the GFPT1 and DPAGT1 genes This causes glycosylation defects and structural NMJ abnormalities It does not cause problems with transmission Clinical features…
Pathology
- This is caused by mutations in the GFPT1 and DPAGT1 genes
- This causes glycosylation defects and structural NMJ abnormalities
- It does not cause problems with transmission
Clinical features
Investigations
Treatment
Ineffective treatments
Acronym
References
- Slater CR, Fawcett PRW, Walls TJ, et al. Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Brain 2006; 129:2061-2076.
- Ohno K. Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes. JNNP 2013; 84:1064.
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