Letter to the Editor Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]

Abstract

ABSTRACT-Duchenne muscular dystrophy (DMD) is a human disease characterized by progressive and irreversible skeletal muscle degeneration caused by mutations in the dystrophin gene, which codifies the protein dystrophin (Francke et al., 1985;Kunkel et al., 1985;Ray et al., 1985;Hoffman et al., 1987), instead of "mutations in genes coding for important muscle proteins"; -Dogs had their disease status confirmed by genotyping, which means polymerase chain reaction (PCR) analysis followed by restriction fragment length polymorphism (RFLP), as described by Sharp et al. (1992) and Honeyman et al. (1999); -DMD patients DO NOT show significant inter-and intrafamiliar clinical variability comparable to the GRMD dog model. In DMD, the progression of the disease is always severe and predictable, and differently from the GRMD dogs there is no neonatal death in humans. In opposition, in Becker muscular dystrophy (BMD), allelic to DMD, we and others observe a wide variability (intra-and inter-familial) in the severity of the phenotype (Vainzof et al., 1993).