Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.


substantia nigra pars compacta, pontine nuclei and inferior olivary nuclei, marked Purkinje-cell loss and demyelination of cerebellar white matter. Immunohistochemistry for a-synuclein (SNCA) revealed widespread glial cytoplasmic inclusions (GCIs) most numerous in the basal ganglia (fig 1B), cerebellar white matter (fig 1C), brainstem and spinal cord, and… (More)
DOI: 10.1136/jnnp.2008.148189

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