Marked hemiatrophy in carriers of Duchenne muscular dystrophy.
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.
Rajakulendran
Sanjeev
S
Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, England.
Kuntzer
Thierry
T
Dunand
Murielle
M
Yau
Shu C
SC
Ashton
Emma J
EJ
Storey
Helen
H
McCauley
Joanna
J
Abbs
Stephen
S
Thonney
Francine
F
Leturcq
France
F
Lobrinus
Johannes A
JA
Yousry
Tarek
T
Farmer
Simon
S
Holton
Janice L
JL
Hanna
Michael G
MG
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
D016189:Dystrophin