AFM (2015 - 2017): Physiopathology of a new congenital
myasthenic syndrome caused by a deficit of agrin secretion by motoneurons
Ataxia Congenital muscular dystrophy
Congenital myasthenic syndrome Fronto - temporal lobe dementia Hereditary motor neuropathies — Charcot - Marie - Tooth disease Hereditary spastic paraplegias Huntington's disease Muscular channelopathy Muscular dystrophy Spinal muscular atrophy — Lower motor neuron disease
Plasmapheresis can be used to treat a variety of disorders including: myasthenia gravis, Guillan - Barre syndrome, chronic inflammatory demyelinating polyneuropathy, Lamber -
Eaton myasthenic syndrome, sickle cell disease, certain forms of neuropathies, Wilson's disease, and thrombotic thrombocytopenic purpura.
This includes
congenital myasthenic syndrome, which most often affects facial muscles and may first show up as drooping eyelids.
Disruption of signal transmission within the NMJ resulting from presynaptic, synaptic, or post-synaptic defects causes congenital
myasthenic syndromes (CMSs), heterogeneous neuromuscular disorders characterized by skeletal muscle weakness and fatigue.
Homozygous mutations in VAMP1 cause a presynaptic congenital
myasthenic syndrome We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).
Within RD - Connect's sister project Neuromics, Hanns was the disease coordinator for the congenital
myasthenic syndromes, and in this and several other exome sequencing projects was responsible for gene discovery and work on disease modifying factors influencing severity of phenotype.
Congenital
myasthenic syndrome (CMS) is an inherited Neuromuscular Disease affecting dogs.
Congenital
myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ).
Citation: Rinz CJ, Levine J, Minor KM, Humphries HD, Lara R, Starr - Moss AN, et al. (2014) A COLQ Missense Mutation in Labrador Retrievers Having Congenital
Myasthenic Syndrome.
Phrases with «myasthenic»