… Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study
assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry. 2015;86:1060–5. …

… Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study
assessing SPP1 and LTBP4 variants. J Neurol Neurosurg Psychiatry. 2015;86:1060–5. …

… Genetic modifiers are typically discussed as genes or gene/protein … genes that can explain
phenotype and guide treatment. The current focus here is, therefore, the genetic modifiers …

… proposed experimental therapies for Duchenne muscular dystrophy (DMD). (A) AAV-mediated
gene therapy employs viral vectors to deliver micro- or mini-dystrophin genes. Clinical …

… DMD is an X-linked muscular dystrophy caused by mutations in the DMD gene. The disease
begins in childhood and the most common characteristics include calf pseudohypertrophy, …

… SMN protein in comparison to healthy controls with intact SMN1 gene copies. Thus, the
SMN2 copy number is the most important genetic modifier of SMA disease severity [85, 319]. …

… muscular dystrophy (DMD) is an X-linked progressive muscle-wasting disorder that is caused
by a lack of functional dystrophin, a … for the structural integrity of muscle. As variants in the …

… DMD is a progressive muscular dystrophy due to the absence of dystrophin protein in muscle
cells because of mutations in DMD gene (Xp21.2-p21.1) disrupting the reading frame or by …

… gene replacement therapy in spinal muscular atrophy. § Evaluation for SMN2 copy number
should be conducted during genetic … and the recently approved splicing modifier risdiplam is …

… ; (8) gene knockdown/silencing of DUX4 downstream targets; (9) gene knockdown/silencing
of genetic modifiers of DUX4 expression or DUX4-mediated toxicity (10) delivery of genes …