[A combination of Duchenne's progressive muscular dystrophy with congenital ichthyosis--a deletion or 2 independent gene mutations at Xp21--Xp22?].
The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 21).
Badalian
L O
LO
Temin
P A
PA
Kamennykh
L N
LN
Zavadenko
N N
NN
Arkhipov
B A
BA
D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D005796:Genes; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D014960:X Chromosome / Q000648:ultrastructure*
Sochetanie progressiruiushcheĭ myshechnoĭ distrofii Diushenna s vrozhdennym ikhtiozom--deletsiia ili dve nezavisimye gennye mutatsii v Xp 21--Xp22?