Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl
Jiang Y, Fang P, Adesina AM, Furman P, Johnston JJ, Biesecker LG, Brown CW. Molecular characterization of co‐occurring Duchenne muscular dystrophy and X‐linked oculo‐facio‐cardio‐dental syndrome in a girl. American Journal Of Medical Genetics Part A 2009, 149A: 1249-1252. PMID: 19449433, PMCID: PMC2819399, DOI: 10.1002/ajmg.a.32863.Peer-Reviewed Original ResearchConceptsCardio-dental syndromeDuchenne muscular dystrophyMuscular dystrophyElevated serum creatine phosphokinaseDigital anomaliesAtrial septal defectSerum creatine phosphokinaseYears of ageStudy of lymphocytesCongenital heart defectsMultiple congenital anomaliesMutation analysisNovo frameshift mutationCanine radiculomegalyWestern blot analysisClinical featuresMuscle weaknessSeptal defectCongenital anomaliesSkewed X-inactivationCalf musclesCreatine phosphokinaseMuscular hypotoniaHeart defectsSevere end