title: Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister.
abstract: Because it is due to a mutation on the X-chromosome, Duchenne muscular dystrophy rarely affects women, unless there is an unequal lyonisation of the X-chromosome containing the normal dystrophin gene. We report here the unique situation of a symptomatic Duchenne muscular dystrophy woman who was transplanted with myoblasts received from her asymptomatic monozygotic twin sister 20 years ago. Specific dynamometry was performed to possibly detect a long-term effect of this cell therapy. Long-term safety of myoblast transplantation was established by this exceptional case. However, long-term efficacy could not be definitively asserted for this patient, in spite of several clues suggesting beneficial effects.
authors.affiliation: Institut de Myologie, GH Pitié-Salpêtrière, Paris, France. jy.hogrel@institut-myologie.org
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Hogrel
authors.forename: Fabien
authors.initials: F
authors.lastname: Zagnoli
authors.forename: Aurélie
authors.initials: A
authors.lastname: Canal
authors.forename: Bodvael
authors.initials: B
authors.lastname: Fraysse
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bouchard
authors.forename: Daniel
authors.initials: D
authors.lastname: Skuk
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Jacques P
authors.initials: JP
authors.lastname: Tremblay
mesh_terms: D064987:Cell- and Tissue-Based Therapy / Q000009:adverse effects; D005260:Female; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D009154:Mutation / Q000235:genetics; D032446:Myoblasts / Q000637:transplantation*; D016896:Treatment Outcome; D014430:Twins, Monozygotic