Congenital myasthenic syndrome (CMS): GMPPB
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): gmppb: 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…
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
Investigations
Treatment
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
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- Congenital myasthenic syndrome (CMS): general features
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- Congenital myasthenic syndrome (CMS): fast channel
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- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
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