title: Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
abstract: OBJECTIVE
  To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutations in the dystrophin gene. Female patients with heterozygous mutations may be manifesting carriers.
  
  
  METHODS
  Case study.
  
  
  METHODS
  Neurology clinic.
  
  
  METHODS
  Two manifesting carriers of DMD.
  
  
  METHODS
  Clinical and radiologic examinations along with histologic and molecular investigations.
  
  
  RESULTS
  Both patients had marked right-sided hemiatrophy on examination with radiologic evidence of muscle atrophy and fatty replacement on the affected side. In each case, histologic analysis revealed a reduction in dystrophin staining on the right side. Genetic analysis of the dystrophin gene revealed a tandem exonic duplication in patient 1 and a multiexonic deletion in patient 2 with no further point mutations identified on the other chromosome.
  
  
  CONCLUSIONS
  Marked hemiatrophy can occur in DMD manifesting carriers. This is likely to result from a combination of skewed X-inactivation and somatic mosaicism.
authors.affiliation: Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, England.
authors.forename: Sanjeev
authors.initials: S
authors.lastname: Rajakulendran
authors.forename: Thierry
authors.initials: T
authors.lastname: Kuntzer
authors.forename: Murielle
authors.initials: M
authors.lastname: Dunand
authors.forename: Shu C
authors.initials: SC
authors.lastname: Yau
authors.forename: Emma J
authors.initials: EJ
authors.lastname: Ashton
authors.forename: Helen
authors.initials: H
authors.lastname: Storey
authors.forename: Joanna
authors.initials: J
authors.lastname: McCauley
authors.forename: Stephen
authors.initials: S
authors.lastname: Abbs
authors.forename: Francine
authors.initials: F
authors.lastname: Thonney
authors.forename: France
authors.initials: F
authors.lastname: Leturcq
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Lobrinus
authors.forename: Tarek
authors.initials: T
authors.lastname: Yousry
authors.forename: Simon
authors.initials: S
authors.lastname: Farmer
authors.forename: Janice L
authors.initials: JL
authors.lastname: Holton
authors.forename: Michael G
authors.initials: MG
authors.lastname: Hanna
mesh_terms: D000328:Adult; D001132:Arm / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D007839:Functional Laterality / Q000502:physiology; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007866:Leg / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009030:Mosaicism; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D049951:X Chromosome Inactivation / Q000235:genetics
chemical_list: D016189:Dystrophin