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GenomicsSimilar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
PRJNA1085670 | ENA
GenomicsCongenital myasthenic syndrome in singapore
Congenital myasthenic syndromes in a Southeast Asian Adult Neurology Clinic: A long road to diagnosis and therapy
PRJEB107818 | ENA
ProteomicsBlood biomarkers in a cohort of patients with CHRNE-associated congenital myasthenic syndrome
Pathogenic variants in CHRNE encoding the epsilon subunit of acetyl choline receptor (AChR) result in impaired neuromuscular transmission and congenital myasthenic syndromes (CMS). Clinical manifestations include facial, ocular and limb fatigability and weakness, whereby severity of symptoms may var...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD054347 | Pride
Cms mirna Cms metabolites Cms biomarkers Plec Cms extracellular vesicles Cms white blood cells Cms amino acids 
UnknownMutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Not available
S-EPMC4547052 | biostudies-literature
UnknownCongenital myasthenic syndrome in China: genetic and myopathological characterization.
Not available
S-EPMC8045908 | biostudies-literature
UnknownVariants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
Not available
S-EPMC5075972 | biostudies-literature
UnknownIdentification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
Not available
S-EPMC4958899 | biostudies-literature
TranscriptomicsSimilar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome
Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, feeding problems, growth retardation, and hyperphagia leading to r...
ORGANISM(S): Mus musculus 
2025-03-10 | GSE261165 | GEO
UnknownMutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Not available
S-EPMC3397259 | biostudies-literature
UnknownA recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Not available
S-EPMC4731685 | biostudies-literature
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