Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.


Children with a deficiency of laminin alpha 2 chain generally show an involvement of skeletal muscles, cerebral white matter and peripheral nerves. Among these patients, however, there is increasing evidence of molecular and phenotype heterogeneity. We report a 19-year-old girl with distal weakness, mental retardation and refractory epilepsy in whom… (More)


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