The importance of genetic diagnosis for Duchenne muscular dystrophy
Top Cited Papers
Open Access
- 11 January 2016
- journal article
- review article
- Published by BMJ in Journal of Medical Genetics
- Vol. 53 (3), 145-151
- https://doi.org/10.1136/jmedgenet-2015-103387
Abstract
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD.Keywords
This publication has 48 references indexed in Scilit:
- An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophyEuropean Journal of Human Genetics, 2012
- Evidence‐based path to newborn screening for duchenne muscular dystrophyAnnals of Neurology, 2012
- Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD geneGenome Research, 2011
- Clinical and genetic characterization of manifesting carriers of DMD mutationsNeuromuscular Disorders, 2010
- Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophiesNeuromuscular Disorders, 2010
- A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesBMC Genomics, 2008
- Asymptomatic Becker muscular dystrophy in a family with a multiexon deletionMuscle & Nerve, 2008
- Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame ruleMuscle & Nerve, 2006
- The muscular dystrophiesThe Lancet, 2002
- Germline mosaicism and Duchenne muscular dystrophy mutationsNature, 1987