Literature DB >> 1877612

Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome).

N Linder1, I Mathot, A Livoff, J Glass, I Bornstein, E Gross, S Yatsiv, A Sommer.   

Abstract

Marden-Walker syndrome present in the neonatal period is characterized by oculo-facial abnormalities, congenital myopathy, and contractures. A newborn infant with a similar pattern of anomalies is reported, and further evidence for autosomal recessive inheritance as well as new neuropathological findings are included.

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Year:  1991        PMID: 1877612     DOI: 10.1002/ajmg.1320390402

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  Unusual manifestation of Marden-Walker syndrome.

Authors:  Amar M Taksande; K Y Vilhekar
Journal:  Indian J Hum Genet       Date:  2012-05
  1 in total

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