Literature DB >> 9596013

Congenital muscular dystrophy and cerebellar atrophy.

B Echenne1, F Rivier, M Tardieu, M Brive, A Robert, A M Pages, F Pons, D Mornet.   

Abstract

Two siblings and two other unrelated patients had congenital muscular weakness and dystrophic changes but normal immunocytochemical stainings for merosin, dystrophin, and dystrophin-related proteins on muscle biopsy. All had marked ataxia and cerebellar atrophy or hypoplasia. Cerebral white matter and cortical organization appeared normal.

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Year:  1998        PMID: 9596013     DOI: 10.1212/wnl.50.5.1477

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  1 in total

1.  Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of duchenne muscular dystrophy.

Authors:  V J Hinton; D C De Vivo; N E Nereo; E Goldstein; Y Stern
Journal:  J Int Neuropsychol Soc       Date:  2001-01       Impact factor: 2.892

  1 in total

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