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Distrofia muscular de Becker con duplicación en el exón 5de..:

Sánchez, Ana Isabel ; Mariño, Nathalie ; Araujo, Andrés Felipe.
Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiological reviews. 2002;82(2):291-329. doi:10.1152/physrev.00028.2001. 2. Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. American journal of human genetics. 1995;56(1):151-7. 3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003;2(12):731-40. 4. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;9(1):77-93. doi:10.1016/S1474-4422(09)70271-6. 5. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from pa....  , 2022