The limb-girdle muscular dystrophy 2C in Gypsies

Luciano Merlini, J. C. Kaplan, C. Navarro, L. Kalaydjieva, F. Leturcq, I. Tournev, V. Guergueltcheva, L. Politano, D. Gresham, M. Santos, S. Teijeira, E. Mattioli

Research output: Contribution to journalArticle

Abstract

Clinical and laboratory data are presented of 68 Gypsy patients belonging to 35 families living in 6 different European countries sharing the same "private" C283Y mutation in the g-sarcoglycan gene. Clinical examination and muscle imaging showed an early selective involvement of the glutei, adductors, hamstrings, spinalis, abdominals, subscapularis, and soleus and long-lasting sparing of quadriceps. Fifty percent had the same severe progression as the Duchenne patients, 25% of patients had the intermediate phenotype and the remaining 25% had the Becker phenotype. Neither mental retardation nor dilated cardiomyopathy was observed. Twenty-five percent of patients were already older than 26 years at the time of examination.

Original languageEnglish
Pages (from-to)188-191
Number of pages4
JournalActa Myologica
Volume20
Issue numberDEC.
Publication statusPublished - 2001

Keywords

  • Gypsy
  • Limb girdle muscular dystrophy
  • Muscle imaging

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Clinical Neurology

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    Merlini, L., Kaplan, J. C., Navarro, C., Kalaydjieva, L., Leturcq, F., Tournev, I., Guergueltcheva, V., Politano, L., Gresham, D., Santos, M., Teijeira, S., & Mattioli, E. (2001). The limb-girdle muscular dystrophy 2C in Gypsies. Acta Myologica, 20(DEC.), 188-191.