Limb-Girdle Muscular Dystrophy Type 2F
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-319-56454-8_16
Reference5 articles.
1. Nigro V, Moreira ES, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet. 1996;14:195–8.
2. Duggan DJ, Manchester D, Stears KP, Mathews DJ, Hart C, Hoffman EP. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics. 1997;1:49–58.
3. Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR. 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. J Med Genet. 1998;35:951–3.
4. Dinçer P, Bönnemann CG, Erdir Aker O, et al. A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F. Neuromuscul Disord. 2000;10:247–50.
5. Boito C, Fanin M, Siciliano G, Angelini C, Pegoraro E. Novel sarcoglycan gene mutations in a large cohort of Italian patients. J Med Genet. 2003;40:E67–73.
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