TY - JOUR
T1 - DMD and BMD in the same family due to two distinct mutations
AU - Morandi, L.
AU - Mora, M.
AU - Tedeschi, S.
AU - Di Blasi, C.
AU - Curcio, C.
AU - De Leonardis, P.
AU - Brugnoni, R.
AU - Bernasconi, P.
AU - Mantegazza, R.
AU - Confalonieri, V.
AU - Cornelio, F.
PY - 1995
Y1 - 1995
N2 - We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing.
AB - We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing.
KW - Becker muscular dystrophy
KW - Duchenne muscular dystrophy
KW - dystrophin gene analysis
KW - dystrophin immunochemical analysis
KW - genetic counseling
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U2 - 10.1002/ajmg.1320590418
DO - 10.1002/ajmg.1320590418
M3 - Article
C2 - 8585572
AN - SCOPUS:0028799027
VL - 59
SP - 501
EP - 505
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -