Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2020.6085
Abstract: Importance Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous… read more here.
Keywords: dystrophy; cln5; variant 415t; macular dystrophy ... See more keywords
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51612
Abstract: Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families: nine had muscular… read more here.
Keywords: dystrophy; muscular dystrophy; read sequencing; capabilities nanopore ... See more keywords
RNA mis‐splicing in children with congenital myotonic dystrophy is associated with physical function
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52224
Abstract: Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis‐splicing and physical function in children with the most severe form of disease, congenital myotonic dystrophy (CDM),… read more here.
Keywords: rna mis; dystrophy; physical function; myotonic dystrophy ... See more keywords
Muscular Dystrophy Surveillance, Tracking, and Research Network pilot: Population-based surveillance of major muscular dystrophies at four U.S. sites, 2007-2011.
Sign Up to like & getrecommendations! Published in 2018 at "Birth defects research"
DOI: 10.1002/bdr2.1371
Abstract: BACKGROUND For 10 years, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducted surveillance for Duchenne and Becker muscular dystrophy (DBMD). We piloted expanding surveillance to other MDs that vary in severity, onset,… read more here.
Keywords: research; surveillance; muscular dystrophy; dystrophy ... See more keywords
SLC4A11 Three‐Dimensional Homology Model Rationalizes Corneal Dystrophy‐Causing Mutations
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23152
Abstract: We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH−/H+/NH3/H2O) of basolateral corneal endothelium, whose mutations cause some cases of congenital hereditary… read more here.
Keywords: homology model; dystrophy; three dimensional; corneal dystrophy ... See more keywords
The X‐linked Becker muscular dystrophy (bmx) mouse models Becker muscular dystrophy via deletion of murine dystrophin exons 45–47
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Cachexia, Sarcopenia and Muscle"
DOI: 10.1002/jcsm.13171
Abstract: Becker muscular dystrophy (BMD) is a genetic neuromuscular disease of growing importance caused by in‐frame, partial loss‐of‐function mutations in the dystrophin (DMD) gene. BMD presents with reduced severity compared with Duchenne muscular dystrophy (DMD), the… read more here.
Keywords: bmd; dystrophy; becker muscular; mouse ... See more keywords
Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10233
Abstract: Mutations in protein O‐mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome (WWS) and milder limb‐girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to… read more here.
Keywords: dystrophy; limb girdle; clinical exome; girdle muscular ... See more keywords
Multi‐Parametric Quantitative MRI in the Early Differential Diagnosis of Ambulatory Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Magnetic Resonance Imaging"
DOI: 10.1002/jmri.29755
Abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), the most common dystrophinopathies, require distinct treatments. Corticosteroids are effective for DMD but less so for BMD. Early diagnosis can improve DMD outcomes and prevent BMD… read more here.
Keywords: duchenne muscular; diagnosis; becker muscular; dystrophy ... See more keywords
Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders"
DOI: 10.1002/mds.29977
Abstract: Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both clinically and genetically. NAD has… read more here.
Keywords: base deletion; neuroaxonal dystrophy; single base; rnf170 single ... See more keywords
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2101
Abstract: Limb‐girdle muscular dystrophy (LGMD) is a non‐syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes… read more here.
Keywords: dystrophy; limb girdle; variants linked; girdle muscular ... See more keywords
Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.622
Abstract: Duchenne muscular dystrophy (DMD) is the most common form of inherited muscular dystrophy. Germline mutations in dystrophin (DMD) gene cause DMD, with a X‐linked recessive mode of inheritance. Patients with DMD are usually characterized by… read more here.
Keywords: dmd; muscular dystrophy; dystrophy; application whole ... See more keywords