Sarcoglycanopathies: an update
M Vainzof, LS Souza, J Gurgel-Giannetti… - Neuromuscular Disorders, 2021 - Elsevier
Sarcoglycanopathies are the most severe forms of autosomal recessive limb-girdle muscular
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is
variable, but onset is usually in the first decade of life. Patients present muscle hypertrophy,
elevated CK, variable muscle weaknesses, and progressive loss of ambulation. Four
subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, caused, respectively, by
mutations in the SGCA, SGCB, SGCG and SGCD genes. Their four coded proteins, α-SG, ß …
dystrophies (LGMDs), constituting about 10–25% of LGMDs. The clinical phenotype is
variable, but onset is usually in the first decade of life. Patients present muscle hypertrophy,
elevated CK, variable muscle weaknesses, and progressive loss of ambulation. Four
subtypes are known: LGMDR3, LGMDR4, LGMDR5 and LGMDR6, caused, respectively, by
mutations in the SGCA, SGCB, SGCG and SGCD genes. Their four coded proteins, α-SG, ß …
