Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis.
LM Kunkel, AH Beggs, EP Hoffman - Clinical chemistry, 1989 - europepmc.org
Duchenne muscular dystrophy (DMD) is a severe muscle-wasting disorder affecting 1 in
3500 males. A less severe and less common form is Becker muscular dystrophy (BMD). Only …
3500 males. A less severe and less common form is Becker muscular dystrophy (BMD). Only …
A dystrophin missense mutation showing persistence of dystrophin and dystrophin‐associated proteins yet a severe phenotype
LR Goldberg… - Annals of Neurology …, 1998 - Wiley Online Library
A muscle biopsy from an X‐linked muscular dystrophy pedigree showed normal dystrophin
and dystrophinassociated proteins. Linkage to multiple markers within the dystrophin gene …
and dystrophinassociated proteins. Linkage to multiple markers within the dystrophin gene …
Dystrophin in frameshift deletion patients with Becker muscular dystrophy.
SB Gangopadhyay, TG Sherratt… - American journal of …, 1992 - ncbi.nlm.nih.gov
In a previous study we identified 14 cases with Duchenne muscular dystrophy (DMD) or its
milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion …
milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion …
Dystrophin gene transcripts skipping the mdx mutation
The mdx mouse, an animal model used to study Duchenne muscular dystrophy, has a
nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated …
nonsense mutation in exon 23 of the dystrophin gene which should result in a truncated …
Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?
M Vainzof, RI Takata, MR Passos-Bueno… - Human molecular …, 1993 - academic.oup.com
The severe Duchenne muscular dystrophy (DMD) and the more benign Becker type (BMD)
are allelic conditions, controlled by a defective gene at Xp21, caused by the absence (DMD) …
are allelic conditions, controlled by a defective gene at Xp21, caused by the absence (DMD) …
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker
GJB Van Ommen, C Bertelson, HB Ginjaar… - Genomics, 1987 - Elsevier
By cloning the endpoints of a DMD-associated deletion, we have “jumpe” 1100 kb from
pERT87-1 (DSX164) to a new locus designated J66 (DXS268), mapping distally within the …
pERT87-1 (DSX164) to a new locus designated J66 (DXS268), mapping distally within the …
Dystrophin in central nervous system: a developmental, regional distribution and subcellular localization study
D Jung, F Pons, JJ Léger, D Aunis, A Rendon - Neuroscience letters, 1991 - Elsevier
Dystrophin, the protein encoded by the Duchenne muscular dystrophy gene has been
shown to be expressed in central nervous system. In the present study, polyclonal …
shown to be expressed in central nervous system. In the present study, polyclonal …
Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development
RD Bies, SF Phelps, MD Cortez, R Roberts… - Nucleic acids …, 1992 - academic.oup.com
Dystrophin transcripts were shown to be alternatively spliced in a pattern characteristic of
both tissue type and developmental stage. Multiple novel spliced forms of dystrophin mRNA …
both tissue type and developmental stage. Multiple novel spliced forms of dystrophin mRNA …
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 …
A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the …
U Lenk, K Oexle, T Voit, U Ancker… - Human molecular …, 1996 - academic.oup.com
We report the first C-terminal missense mutation in a Duchenne muscular dystrophy patient.
A G10227A transition of the dystrophin gene was found which resulted in the substitution of …
A G10227A transition of the dystrophin gene was found which resulted in the substitution of …