[Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex].

Abstract

Linkage studies have confirmed the existence of clinical an genetic heterogeneity among the muscular dystrophies due to adhalin deficiency. We present the clinical, histological and genetic characteristics in a case of primary adhalinopathy (deficiency of the 50 kD subunit or alpha-sarcoglycan). It was a 19 years-old woman, born of non consanguineous parents, who shows a long evolution myopathy with onset before age 7, a severe evolution and becoming wheelchair bound at 10 years. She showed evident calf pseudohypertrophy and serum creatinkinase (CK) levels were elevated (40-180 times the standard level). The histological pattern showed a destructed fascicular architecture in agreement with severe muscular dystrophy, normal staining with anti-dystrophin monoclonal antibodies and abnormal staining pattern with anti-adhalin antibodies. The molecular study evidenced an homozygous point mutation (Arg-->Cys) at position 77 of exon 3 of the gene coding for the 50 kD subunit of the alpha-sarcoglycan complex localised in chromosome 17. In the light of this case, we suggest a revision of the diagnostic orientation in the muscular dystrophies and we review the new taxonomy of the limb-girdle muscular dystrophies, remarking the clinical signs which could indicate a given genetic locus.

• Authors: M Urtasun, J J Poza, P Gallano, A Lasa, A Sáenz, A M Cobo, F Leturcq, A López de Munain, F García-Bragado
• Journal: Medicina clinica (Med Clin (Barc)) Vol. 110 Issue 14 Pg. 538-42 (Apr 25 1998) ISSN: 0025-7753 [Print] Spain
• Vernacular Title: Distrofia muscular por déficit de la subunidad alfa-sarcoglucano del complejo de proteínas relacionadas con la distrofina.
• PMID: 9646269 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Cytoskeletal Proteins
• Dystrophin
• Membrane Glycoproteins
• Sarcoglycans

Topics

• Adult
• Age of Onset
• Chromosomes, Human, Pair 17
• Cytoskeletal Proteins (genetics)
• Dystrophin (metabolism)
• Female
• Humans
• Immunohistochemistry
• Membrane Glycoproteins (genetics)
• Muscular Dystrophies (genetics, metabolism, pathology)
• Point Mutation
• Polymorphism, Single-Stranded Conformational
• Sarcoglycans