TY - JOUR
T1 - Discordancia genotipo-fenotipo en un paciente con distrofia muscular de duchenne por una nueva mutación
T2 - Hipótesis de la función de amortiguación de la distrofina
AU - López-Hernández, Luz B.
AU - van Heusden, Dave
AU - Soriano-Ursúa, Marvin A.
AU - Figuera-Villanueva, Luis
AU - Vázquez-Cárdenas, Norma A.
AU - Canto, Patricia
AU - Gómez-Díaz, Benjamín
AU - Coral-Vázquez, Ramón M.
PY - 2011
Y1 - 2011
N2 - Introduction. Duchenne muscular dystrophy (DMD) is a genomic disorder characterized by progressive muscle wasting and weakness due to the absence or abnormal function of dystrophin; a protein that protects muscle cells from mechanical induced stress during contraction. Mutations in the DMD gene, may lead to different clinical phenotypes, collectively known as dystrophinopathies, of which DMD has the earliest onset and most severe progression. Case report. We report a novel deletion of exons 24-41, predicted to maintain the reading frame and expected to result in a mild phenotype. Conversely, the patient has a severe DMD phenotype. Conclusions. Our report supports the hypothesis that disruption of the gamma-actin-binding site located in the central rod domain plays a crucial role in the shock absorber function of dystrophin in muscle cells. Description of pathogenic variants in the DMD gene and the resulting phenotypes has important implications on the designing of molecular therapeutic approaches for DMD.
AB - Introduction. Duchenne muscular dystrophy (DMD) is a genomic disorder characterized by progressive muscle wasting and weakness due to the absence or abnormal function of dystrophin; a protein that protects muscle cells from mechanical induced stress during contraction. Mutations in the DMD gene, may lead to different clinical phenotypes, collectively known as dystrophinopathies, of which DMD has the earliest onset and most severe progression. Case report. We report a novel deletion of exons 24-41, predicted to maintain the reading frame and expected to result in a mild phenotype. Conversely, the patient has a severe DMD phenotype. Conclusions. Our report supports the hypothesis that disruption of the gamma-actin-binding site located in the central rod domain plays a crucial role in the shock absorber function of dystrophin in muscle cells. Description of pathogenic variants in the DMD gene and the resulting phenotypes has important implications on the designing of molecular therapeutic approaches for DMD.
KW - Duchenne
KW - Dystrophin
KW - MLPA
KW - Reading frame
KW - Rod domain
KW - Shock absorber
UR - http://www.scopus.com/inward/record.url?scp=79959624041&partnerID=8YFLogxK
U2 - 10.33588/rn.5212.2011030
DO - 10.33588/rn.5212.2011030
M3 - Artículo
SN - 0210-0010
VL - 52
SP - 720
EP - 724
JO - Revista de Neurologia
JF - Revista de Neurologia
IS - 12
ER -