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Fukuyama Congenital Muscular Dystrophy: Walker-Warburg Syndrome

  • Corrado Angelini
Chapter

Abstract

Fukuyama et al. [1, 2] independently described a form of CMD recurrent in Japan, where patients manifested generalized muscle weakness and hypotonia and most were unable to reach independent walking. Mental retardation is common, and some have epilepsy, abnormal EEG, and MRI-CT changes. Brain malformations consist in cerebral and cerebellar micropolygyria, hydrocephalus, and hypoplasia of the corticospinal tracts.

Keywords

Alpha-dystroglycan Muscle Mental retardation Epilepsy Brain and eye abnormalities 

References

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Copyright information

© Springer International Publishing Switzerland 2018

Authors and Affiliations

  • Corrado Angelini
    • 1
  1. 1.IRCCS Fondazione S.Camillo HospitalUniversità di Padova, Dipartimento di Neuroscienze PadovaVeniceItaly

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