Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs

E. Ricci, E. Bertini, R. Boldrini, M. Sabatelli, S. Servidei, M. R M Mazziotta, C. Bosman, P. Tonali

Research output: Contribution to journalArticlepeer-review

Abstract

We report on sibs with scleroatonic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone deficiency were noted during follow-up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.

Original languageEnglish
Pages (from-to)933-942
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume31
Issue number4
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Genetics(clinical)

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