title: Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene.
abstract: We report a 6-year-old female patient presenting with a sudden and severe single episode of rhabdomyolysis in which screening for a metabolic disorder was negative. Four months after the episode a muscle biopsy was performed and showed a mild pattern of necrosis/regeneration. Upon immunofluorescence, a mosaic pattern of dystrophin deficiency was found, and in the dystrophin deficient muscle fibres, the four proteins of the sarcoglycan complex were also lacking. Genetic analysis showed a duplication of exons 3 to 17 on one X-chromosome of the proband, but not on the mother's X-chromosome. A clearly skewed X-inactivation (85% of the defective X being active) was found and is consistent with the patient being symptomatic. To our knowledge, a spontaneous rhabdomyolysis in a female Duchenne muscular dystrophy carrier has never been reported.
authors.affiliation: INSERM U523 and Institut de Myologie, Hôpital de la Salpêtrière; 47 Boulevard de l'Hôpital, 75013, Paris, France. nb.romero@myologie.chups.jussieu.fr
authors.forename: N B
authors.initials: NB
authors.lastname: Romero
authors.forename: P
authors.initials: P
authors.lastname: De Lonlay
authors.forename: S
authors.initials: S
authors.lastname: Llense
authors.forename: F
authors.initials: F
authors.lastname: Leturcq
authors.forename: G
authors.initials: G
authors.lastname: Touati
authors.forename: J A
authors.initials: JA
authors.lastname: Urtizberea
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: D
authors.initials: D
authors.lastname: Récan
mesh_terms: D001706:Biopsy; D002648:Child; D004303:Dosage Compensation, Genetic; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D020131:Genes, Duplicate; D006579:Heterozygote; D006801:Humans; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D012206:Rhabdomyolysis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D014960:X Chromosome
chemical_list: D016189:Dystrophin