DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms …
F Fortunato, L Tonelli, M Farnè, R Selvatici… - Frontiers in …, 2024 - frontiersin.org
DMD gene pathogenic variations cause a spectrum of phenotypes, ranging from severe
Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild …
Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild …
Spectrum of genetic variants in the dystrophin gene: A single centre retrospective analysis of 750 Duchenne and Becker patients from southern Italy
E Viggiano, E Picillo, L Passamano, ME Onore… - Genes, 2023 - mdpi.com
Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the
dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct …
dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct …
An ultra-rare manifestation of an X-linked recessive disorder: Duchenne muscular dystrophy in a female patient
Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy.
Patients are characterized by muscle weakness, gross motor delay, and elevated serum …
Patients are characterized by muscle weakness, gross motor delay, and elevated serum …
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
ML Guevara‐Fujita… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background We report the molecular analysis of the DMD gene in a group of Peruvian
patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly …
patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly …
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis
Y Pan, BRR Nallamilli, R Liu, N Guruju… - Journal of Medical …, 2025 - jmg.bmj.com
Background Pathogenic variants in the DMD gene are associated with dystrophinopathy
including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted DMD gene …
including Duchenne and Becker muscular dystrophy (DMD/BMD). Targeted DMD gene …
molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting
N Wijekoon, L Gonawala, P Ratnayake… - European Journal of …, 2024 - Springer
Abstract Background The phenotype of Duchenne muscular dystrophy (DMD) and Becker
muscular dystrophy (BMD) patients is determined by the type of DMD gene variation, its …
muscular dystrophy (BMD) patients is determined by the type of DMD gene variation, its …
Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
H Ozkalayci, E Bora, T Cankaya, M Kocabey… - Neurogenetics, 2024 - Springer
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked
recessive allelic muscle diseases caused by dystrophin gene mutations. Eight hundred thirty …
recessive allelic muscle diseases caused by dystrophin gene mutations. Eight hundred thirty …
Comparison of Carrier and de novo Pathogenic Variants in a Chinese DMD/BMD Cohort
J Lin, H Li, Z Liao, L Wang, C Zhang - Frontiers in Neurology, 2021 - frontiersin.org
Background: Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked
recessively inherited neuromuscular disorders caused by deletions, duplications, or small …
recessively inherited neuromuscular disorders caused by deletions, duplications, or small …
Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy
M Wayhelova, M Ryzí, J Oppelt, E Hladilkova… - neurogenetics, 2020 - Springer
Pathogenic sequence variants in the IQ motif–and Sec7 domain–containing protein 2
(IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of …
(IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of …
Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing
X Zhang, X Chen, J Chen, Y Ma, S Huang… - Journal of Human …, 2022 - nature.com
Duchenne muscular dystrophy (DMD, MIM# 310200) and Becker muscular dystrophy (BMD,
MIM# 300376) are X-linked recessive hereditary diseases caused by pathogenic variants in …
MIM# 300376) are X-linked recessive hereditary diseases caused by pathogenic variants in …