Nota Clínica

Gamma­Sarcoglycanopathy. Two new cases in a gypsy family in spain

I. García-Morales, L. Galán, F. Mateos-Beato, R. Simón, P. Morales, A. Cabello, C.I. Gómez-Escalonilla DOI: OPEN ACCESS
Volumen 29 | Number 04 | Nº of views of the article 6.014 | Nº of PDF downloads 123 | Article publication date 16/08/1999
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ABSTRACT Artículo en español English version
INTRODUCTION Included under the heading of limb girdle muscular dystrophy is a heterogeneous group of myopathies which share the same phenotype characteristics. The illness is of early onset, progressive and basically involves muscles of the shoulder and pelvic girdles. Recent identification of muscle proteins and the genes which codify them has led to new classification of these conditions according to their genetic characteristics. It is currently accepted that there are two major groups: the dominant and recessive forms. The latter includes type 2C limb girdle muscular dystrophy associated with chromosome 13, where the gene for g­sarcoglycan is found. This protein belongs to the glycoprotein complex associated with dystrophin. Recently a new mutation has been identified, the C283Y, exclusive to the Gypsy race, which affects this gene and therefore the alterations in g­sarcoglycan produced by it. CLINICAL CASE. We describe two patients, Gypsy brothers, who complained of myopathy, which they had had for some years, compatible with this condition and in whom the C283Y mutation had recently been detected.

CONCLUSIONS We describe another Spanish Gypsy family, all members of which have the characteristic mutation. We emphasize the importance of genetic studies in all cases of myopathy which have not been fully diagnosed
KeywordsDystrophinDystrophinopathiesg-sarcoglycanLimb girdle dystrophyProtein complex associated with dystrophinSarcoglycan complex CategoriesNervios periféricos, unión neuromuscular y músculo
FULL TEXT (solo disponible en lengua castellana / Only available in Spanish)