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Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J. Alonso-Pérez J, et al. Brain. 2022 Apr 18;145(2):596-606. doi: 10.1093/brain/awab301. Brain. 2022. PMID: 34515763 Free PMC article.
Our aim was to characterize the clinical and genetic spectrum of a large international cohort of LGMDR6 patients and to investigate whether or not genetic or protein expression data could predict a disease's severity. This is a retrospective study collecting demographic, g …
Our aim was to characterize the clinical and genetic spectrum of a large international cohort of LGMDR6 patients and to investigate whether …
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR. Moreira ES, et al. J Med Genet. 1998 Nov;35(11):951-3. doi: 10.1136/jmg.35.11.951. J Med Genet. 1998. PMID: 9832045 Free PMC article.
Interestingly, this new mutation is also associated with a severe clinical course. In addition, our results suggest that this form of severe AR LGMD is not very rare in our population....
Interestingly, this new mutation is also associated with a severe clinical course. In addition, our results suggest that this form of …
A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.
Gouveia TL, Kossugue PM, Paim JF, Zatz M, Anderson LV, Nigro V, Vainzof M. Gouveia TL, et al. J Mol Med (Berl). 2007 Apr;85(4):415-20. doi: 10.1007/s00109-007-0163-8. Epub 2007 Jan 30. J Mol Med (Berl). 2007. PMID: 17265058
The patient started clinical manifestation at age 25, with frequent falls, but he is currently able to walk unassisted at age 42. His clinical course is significantly milder when compared to several other affected patients carrying the same mutation associated with a total …
The patient started clinical manifestation at age 25, with frequent falls, but he is currently able to walk unassisted at age 42. His clinic …