INTRODUCTION: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. METHODS: Clinical course and electrophysiological, pathological, and genetic findings were assessed. RESULTS: We describe the case of a boy with prenatal onset and severe respiratory symptoms with a persisting need for ventilation. The patient had severe bulbar symptoms, marked axial weakness causing a "dropped head," and some facial and proximal weakness. Ophthalmoparesis developed during the first year of life. Salbutamol led to improvement, 3,4-diaminopyridine had...
Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic...
PubMedID: 31773638Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of...
International audienceCongenital myasthenic syndromes (CMS) are a clinically and genetically heterog...
INTRODUCTION: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 20...
PhD ThesisCongenital myasthenic syndromes (CMS) are inherited disorders in which the safety margin o...
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorde...
We found a late presented congenital myasthenic syndrome (CMS) patient with novel CHRNE gene mutatio...
Congenital myasthenic syndromes (CMS) are a relatively rare cause of fatigable muscle weakness often...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
Very few areas of medical genetics have been so profoundly impacted by the advent of next- generatio...
WOS: 000404044200010PubMed ID: 28464723Congenital myasthenic syndromes are clinically and geneticall...
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of n...
International audienceCongenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic di...
Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders caused by mutations in ...
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neur...
Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic...
PubMedID: 31773638Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of...
International audienceCongenital myasthenic syndromes (CMS) are a clinically and genetically heterog...
INTRODUCTION: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 20...
PhD ThesisCongenital myasthenic syndromes (CMS) are inherited disorders in which the safety margin o...
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorde...
We found a late presented congenital myasthenic syndrome (CMS) patient with novel CHRNE gene mutatio...
Congenital myasthenic syndromes (CMS) are a relatively rare cause of fatigable muscle weakness often...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
Very few areas of medical genetics have been so profoundly impacted by the advent of next- generatio...
WOS: 000404044200010PubMed ID: 28464723Congenital myasthenic syndromes are clinically and geneticall...
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of n...
International audienceCongenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic di...
Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders caused by mutations in ...
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neur...
Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic...
PubMedID: 31773638Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of...
International audienceCongenital myasthenic syndromes (CMS) are a clinically and genetically heterog...