International audienceCongenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically heterogeneous group of primary muscle disorders where weakness and atrophy are restricted to distal muscles, at least initially. In both congenital myasthenic syndromes and distal myopathies, a significant number of patients remain genetically undiagnosed. Here, we report five patients from three unrelated families with a strikingly ho...
Congenital myasthenic syndromes (CMS) are inherited diseases affecting the neuromuscular junction (N...
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding ...
International audienceCongenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic di...
International audienceCongenital myasthenic syndromes are a clinically and genetically heterogeneous...
International audienceWe report the case of a congenital myasthenic syndrome due to a mutation in AG...
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding ...
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding ...
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 u...
We describe a severe form of congenital myasthenic syndrome (CMS) caused by two heteroallelic mutati...
International audienceAbstract Congenital myasthenic syndromes (CMS) are predominantly characterized...
Congenital myasthenic syndromes (CMS) are caused by mutations in molecules expressed at the neuromus...
Congenital myasthenic syndromes (CMS) are inherited diseases affecting the neuromuscular junction (N...
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding ...
International audienceCongenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic di...
International audienceCongenital myasthenic syndromes are a clinically and genetically heterogeneous...
International audienceWe report the case of a congenital myasthenic syndrome due to a mutation in AG...
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding ...
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding ...
Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 u...
We describe a severe form of congenital myasthenic syndrome (CMS) caused by two heteroallelic mutati...
International audienceAbstract Congenital myasthenic syndromes (CMS) are predominantly characterized...
Congenital myasthenic syndromes (CMS) are caused by mutations in molecules expressed at the neuromus...
Congenital myasthenic syndromes (CMS) are inherited diseases affecting the neuromuscular junction (N...
We report the case of a congenital myasthenic syndrome due to a mutation in AGRN, the gene encoding ...
International audienceCongenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic di...