Sentences with phrase «congenital myasthenic»

Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ).

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.

Congenital myasthenic syndrome (CMS) is an inherited Neuromuscular Disease affecting dogs.

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.

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome We report 2 families with undiagnosed recessive presynaptic congenital myasthenic syndrome (CMS).

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