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Quoted phrase not found in phrase index: "Autosomal recessive limb-girdle muscular dystrophy type 2E"
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Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z, Hou Y, Yu M, Liu Y, Fan Y, Zhang W, Wang Z, Xiong H, Yuan Y. Xie Z, et al. Orphanet J Rare Dis. 2019 Feb 14;14(1):43. doi: 10.1186/s13023-019-1021-9. Orphanet J Rare Dis. 2019. PMID: 30764848 Free PMC article.
BACKGROUND: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, LGMD2E, and LGMD2F) that are caused, respectively, by mutations in the SGCG, SGCA, SGCB, and SGCD genes. ...Missense mutations in both allel …
BACKGROUND: Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D, …
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
Bönnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sá Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM. Bönnemann CG, et al. Hum Mol Genet. 1996 Dec;5(12):1953-61. doi: 10.1093/hmg/5.12.1953. Hum Mol Genet. 1996. PMID: 8968749
Autosomal recessive limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous. ...Only one of these patients carried a truncating mutation (homozygous 2 bp deletion, FS164TER), while the other three carried missense mutations (homozygous R91P, homozygou …
Autosomal recessive limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous. ...Only one of these patients carr …