Add to ORKGCongenital myasthenic syndromes are extremely rare disorders. We report the case of an 18-year-old Croatian woman with homozygosity of the 1267delG mutation of the epsilon acetylcholine receptor subunit gene. She showed limb-girdle weakness accompanied with increased fatigability and a nearly complete external ophthalmoplegia. The therapeutic effect of pyridostigmine was relatively poor. The pathological mechanisms of acetylcholine receptor subunit mutations are discussed
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characte...
Congenital myasthenic syndromes are extremely rare disorders. We report the case of an 18-year-old C...
Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (C...
A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted ...
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause...
PubMedID: 31773638Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of...
OBJECTIVE: Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients w...
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary d...
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary d...
Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders caused by mutations in ...
We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic synd...
The Author(s) 2009. This article is published with open access at Springerlink.com Abstract Congenit...
Las mutaciones en el gen CHRNE son la principal causa de síndromes miasténicos congénitos. La transm...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characte...
Congenital myasthenic syndromes are extremely rare disorders. We report the case of an 18-year-old C...
Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (C...
A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted ...
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause...
PubMedID: 31773638Congenital Myasthenic Syndromes (CMS) are rare disorders that occur as a result of...
OBJECTIVE: Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients w...
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary d...
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary d...
Congenital myasthenic syndromes (CMS) are a group of heterogeneous disorders caused by mutations in ...
We describe the clinical characteristics of 3 siblings from 1 family with congenital myasthenic synd...
The Author(s) 2009. This article is published with open access at Springerlink.com Abstract Congenit...
Las mutaciones en el gen CHRNE son la principal causa de síndromes miasténicos congénitos. La transm...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscu...
A reduction in the number of acetylcholine receptors (AChR) on the postsynaptic membrane is characte...