Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
SD Wilton, DC Chandler, BA Kakulas… - Human mutation, 1994 - Wiley Online Library
Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X‐linked disorders
arising from mutations in the (2.4 Mb) dystrophin gene at Xp21. We have applied the reverse …
arising from mutations in the (2.4 Mb) dystrophin gene at Xp21. We have applied the reverse …
[引用][C] Dystrophin in the nervous system
HGW Lidov - Brain pathology, 1996 - Wiley Online Library
Duchenne/Becker dystrophy (DMD/BMD), in common with many myopathies, affects the
nervous system as well as muscle. In the discussion that follows it is assumed that the …
nervous system as well as muscle. In the discussion that follows it is assumed that the …
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent …
E Pegoraro, RN Schimke, C Garcia, H Stern… - Neurology, 1995 - AAN Enterprises
Article abstract-We studied 19 symptomatic female carriers of the Duchenne muscular
dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or …
dystrophy (DMD) gene. Most of these dystrophinopathy patients had had an erroneous or …
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
C Béroud, A Carrié, C Beldjord, N Deburgrave… - Neuromuscular …, 2004 - Elsevier
In the course of a mutation search performed by muscle dystrophin transcript analysis in 72
Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene …
Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene …
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation
L Fajkusová, Z Lukáš, M Tvrdı́ková, V Kuhrová… - Neuromuscular …, 2001 - Elsevier
The complete dystrophin mRNA sequence has been analyzed in 20 Duchenne muscular
dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were …
dystrophy and Becker muscular dystrophy patients. In 13 cases, deletions in mRNA were …
[引用][C] Genetics of Duchenne muscular dystrophy
RG Worton, MW Thompson - Annual review of genetics, 1988 - annualreviews.org
Duchenne muscular dystrophy (DMD) is a lethal X-linked genetic disease that for many
years was one of the most perplexing and frustrating disorders in clinical genetics. Until the …
years was one of the most perplexing and frustrating disorders in clinical genetics. Until the …
Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
IB Ginjaar, ALJ Kneppers, LVB Anderson… - European Journal of …, 2000 - nature.com
Within one X-linked muscular dystrophy family, different phenotypes for three males
occurred:(1) a severely affected Becker patient with cardiomyopathy,(2) a mildly affected …
occurred:(1) a severely affected Becker patient with cardiomyopathy,(2) a mildly affected …
Differential expression and subcellular distribution of dystrophin Dp71 isoforms during differentiation process
FG Marquez, B Cisneros, F Garcia, V Ceja… - Neuroscience, 2003 - Elsevier
Dp71 is the major product of the Duchenne muscular dystrophy gene in the brain. In order to
study the function of Dp71 in the nervous system we examined the expression of Dp71 …
study the function of Dp71 in the nervous system we examined the expression of Dp71 …
Brain abnormalities in Duchenne muscular dystrophy: phosphorus-31 magnetic resonance spectroscopy and neuropsychological study
Duchenne muscular dystrophy (DMD) is one of a range of muscular dystrophies caused by
abnormalities of the short arm of the X chromosome (Xp21), which often cause mental …
abnormalities of the short arm of the X chromosome (Xp21), which often cause mental …
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy
D Rapaport, MR Passos‐Bueno… - American journal of …, 1991 - Wiley Online Library
A total of 162 Duchenne (DMD) patients and two girls with a DMD phenotype were anlysed
for deletions in the central region of the dystrophin gene in order to determine if there was a …
for deletions in the central region of the dystrophin gene in order to determine if there was a …