Inherited disorders of the neuromuscular junction: an update.
Congenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited disorders caused by mutations in genes affecting the function and structure of the neuromuscular junction. This review updates the reader on established and novel subtypes of congenital myasthenia, and the treatment strate...
| Main Authors: | , , |
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| Format: | Journal article |
| Language: | English |
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Dr. Dietrich Steinkopff Verlag GmbH and Co. KG
2014
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| _version_ | 1826305017839091712 |
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| author | Rodríguez Cruz, P Palace, J Beeson, D |
| author_facet | Rodríguez Cruz, P Palace, J Beeson, D |
| author_sort | Rodríguez Cruz, P |
| collection | OXFORD |
| description | Congenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited disorders caused by mutations in genes affecting the function and structure of the neuromuscular junction. This review updates the reader on established and novel subtypes of congenital myasthenia, and the treatment strategies for these increasingly heterogeneous disorders. The discovery of mutations associated with the N-glycosylation pathway and in the family of serine peptidases has shown that causative genes encoding ubiquitously expressed molecules can produce defects at the human neuromuscular junction. By contrast, mutations in lipoprotein-like receptor 4 (LRP4), a long-time candidate gene for congenital myasthenia, and a novel phenotype of myasthenia with distal weakness and atrophy due to mutations in AGRN have now been described. In addition, a pathogenic splicing mutation in a nonfunctional exon of CHRNA1 has been reported emphasizing the importance of analysing nonfunctional exons in genetic analysis. The benefit of salbutamol and ephedrine alone or combined with pyridostigmine or 3,4-DAP is increasingly being reported for particular subtypes of CMS. |
| first_indexed | 2024-03-07T06:26:30Z |
| format | Journal article |
| id | oxford-uuid:f478d089-0ad8-41ef-9aad-29f259e5570d |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T06:26:30Z |
| publishDate | 2014 |
| publisher | Dr. Dietrich Steinkopff Verlag GmbH and Co. KG |
| record_format | dspace |
| spelling | oxford-uuid:f478d089-0ad8-41ef-9aad-29f259e5570d2022-03-27T12:20:02ZInherited disorders of the neuromuscular junction: an update.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:f478d089-0ad8-41ef-9aad-29f259e5570dEnglishSymplectic Elements at OxfordDr. Dietrich Steinkopff Verlag GmbH and Co. KG2014Rodríguez Cruz, PPalace, JBeeson, DCongenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited disorders caused by mutations in genes affecting the function and structure of the neuromuscular junction. This review updates the reader on established and novel subtypes of congenital myasthenia, and the treatment strategies for these increasingly heterogeneous disorders. The discovery of mutations associated with the N-glycosylation pathway and in the family of serine peptidases has shown that causative genes encoding ubiquitously expressed molecules can produce defects at the human neuromuscular junction. By contrast, mutations in lipoprotein-like receptor 4 (LRP4), a long-time candidate gene for congenital myasthenia, and a novel phenotype of myasthenia with distal weakness and atrophy due to mutations in AGRN have now been described. In addition, a pathogenic splicing mutation in a nonfunctional exon of CHRNA1 has been reported emphasizing the importance of analysing nonfunctional exons in genetic analysis. The benefit of salbutamol and ephedrine alone or combined with pyridostigmine or 3,4-DAP is increasingly being reported for particular subtypes of CMS. |
| spellingShingle | Rodríguez Cruz, P Palace, J Beeson, D Inherited disorders of the neuromuscular junction: an update. |
| title | Inherited disorders of the neuromuscular junction: an update. |
| title_full | Inherited disorders of the neuromuscular junction: an update. |
| title_fullStr | Inherited disorders of the neuromuscular junction: an update. |
| title_full_unstemmed | Inherited disorders of the neuromuscular junction: an update. |
| title_short | Inherited disorders of the neuromuscular junction: an update. |
| title_sort | inherited disorders of the neuromuscular junction an update |
| work_keys_str_mv | AT rodriguezcruzp inheriteddisordersoftheneuromuscularjunctionanupdate AT palacej inheriteddisordersoftheneuromuscularjunctionanupdate AT beesond inheriteddisordersoftheneuromuscularjunctionanupdate |