Congenital myasthenic syndrome (CMS): GMPPB
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): GMPPB. This is caused by mutations in the GMPPB gene. Fully referenced neurology checklist.
Pathology
- This is caused by mutations in the GMPPB gene
- The gene is involved in glycosylation
- GMPPB gene mutations also cause muscular dystrophy (dystroglycanopathy)
- It may present later than infancy
Clinical features
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Investigations
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Treatment
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References
- Rodríguez Cruz PM, Belaya K, Basiri K, et al. Clinical features of the myasthenic syndrome arising from mutations in GMPPB. JNNP 2016; 87:802-809.
- Belaya K, Rodríguez Cruz PM, Liu WW, et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 2015; 138:2493-2504.
- Montagnese F, Klupp E, Karampinos DC, et al. Two patients with GMPPB mutation: the overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. Muscle Nerve 2017; 56:334-340.
Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
- Congenital myasthenic syndrome (CMS): pathway classification
- Congenital myasthenic syndrome (CMS): general features
- Congenital myasthenic syndrome (CMS): DOK7
- Congenital myasthenic syndrome (CMS): MUSK
- Congenital myasthenic syndrome (CMS): RAPSN
- Congenital myasthenic syndrome (CMS): COLQ
- Congenital myasthenic syndrome (CMS): AGRIN
- Congenital myasthenic syndrome (CMS): CHAT
- Congenital myasthenic syndrome (CMS): LAMB2
- Congenital myasthenic syndrome (CMS): fast channel
- Congenital myasthenic syndrome (CMS): slow channel
- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
