Related Experiment Video
Updated: Jul 5, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina
S Avila De Salman1, A L Taratuto, G Dekomien
1Servicio de Genética, Hospital Provincial Neuquén, Neuquén, Argentina. silviaavila@speedy.com.ar
Abstract:
Immunohistochemical and DNA results are described in a patient with sarcoglycanopathy. Immunostaining was comparatively normal for alpha-, attenuated for beta- and delta-, and markedly attenuated for gamma-sarcoglycan, thus sarcoglycanopathy was diagnosed, presumably a gamma-sarcoglycanopathy. Unexpectedly, two alpha-SGP-related pathogenic mutations were identified in compound heterozygosity in the SGCA gene: c.229C > T (p.Arg77Cys) in exon 3 and c.850C > T (p.Arg284Cys) in exon 7. These are discussed together with six additional changes detected in SGCB, SGCG and SGCD.
Related Concept Videos
Karyotyping
Animal Mitochondrial Genetics

