Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading‐frame rule

A Aartsma‐Rus, JCT Van Deutekom… - Muscle & Nerve …, 2006 - Wiley Online Library
The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations
in the DMD gene. This gene codes for dystrophin, a protein important for maintaining the …

The structural and functional diversity of dystrophin

AH Ahn, LM Kunkel - Nature genetics, 1993 - nature.com
Duchenne and Becker muscular dystrophies are caused by defects of the dystrophin gene.
Expression of this large X-linked gene is under elaborate transcriptional and splicing control …

X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus.

JA Towbin, JF Hejtmancik, P Brink, B Gelb, XM Zhu… - Circulation, 1993 - Am Heart Assoc
BACKGROUND X-linked cardiomyopathy (XLCM) is a rapidly progressive primary
myocardial disorder presenting in teenage males as congestive heart failure. Manifesting …

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

AH Beggs, EP Hoffman, JR Snyder… - American journal of …, 1991 - ncbi.nlm.nih.gov
Becker muscular dystrophy (BMD) often results from in-frame mutations of the dystrophin
gene that allow production of an altered but partially functional protein. To address potential …

Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides

MG Dunckley, M Manoharan, P Villiet… - Human molecular …, 1998 - academic.oup.com
Deletions and point mutations in the gene encoding the cytoskeletal protein dystrophin and
its isoforms cause either the severe progressive myopathy Duchenne muscular dystrophy …

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

JN Haslett, D Sanoudou, AT Kho… - Proceedings of the …, 2002 - National Acad Sciences
The primary cause of Duchenne muscular dystrophy (DMD) is a mutation in the dystrophin
gene leading to the absence of the corresponding RNA transcript and protein. Absence of …

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

LE Maquat - Rna, 1995 - rnajournal.cshlp.org
It appears that no organism is immune to the effects of nonsense codons on mRNA
abundance. The study of how nonsense codons alter RNA metabolism is still at an early …

Dystrophinopathies

BT Darras, CC Menache-Starobinski, V Hinton… - … disorders of Infancy …, 2015 - Elsevier
Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …

Familial hypobetalipoproteinemia.

MF Linton, RV Farese Jr, SG Young - Journal of lipid research, 1993 - Elsevier
Hypobetalipoproteinemia is an autosomal codominant disorder characterized by decreased
or absent plasma concentrations of the apolipoprotein (apo) B-containing lipoproteins …

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease …

M Pescatori, A Broccolini, C Minetti, E Bertini… - The FASEB …, 2007 - Wiley Online Library
Genome‐wide gene expression profiling of skeletal muscle from Duchenne muscular
dystrophy (DMD) patients has been used to describe muscle tissue alterations in DMD …