Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.
Journal
Journal of clinical neuromuscular disease
ISSN: 1537-1611
Titre abrégé: J Clin Neuromuscul Dis
Pays: United States
ID NLM: 100887391
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
entrez:
27
5
2020
pubmed:
27
5
2020
medline:
27
4
2021
Statut:
ppublish
Résumé
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Mutations in novel genes have been described in recent years. Among these, MUSK gene mutations are extremely rare, with only 8 families identified worldwide to date. We report a Spanish case, a carrier of one known hetero-allelic missense mutation and one newly identified MUSK gene variant. Our patient presented with congenital onset ophthalmoplegia and palpebral ptosis associated with limb-girdle weakness and exercise intolerance without prominent fatigability, developed during his twenties. He was misdiagnosed as mitochondrial myopathy because of paraclinic and histologic findings, but detailed clinical examination prompted us to reassess him with repetitive stimulation technique, demonstrating decremental response and suggesting myasthenic syndrome. A genetic study confirmed the clinical diagnosis allowing us to started treatment with excellent clinical response.
Identifiants
pubmed: 32453097
doi: 10.1097/CND.0000000000000277
pii: 00131402-202006000-00004
doi:
Substances chimiques
Receptors, Cholinergic
0
MUSK protein, human
EC 2.7.10.1
Receptor Protein-Tyrosine Kinases
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
222-224Références
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