Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]
, 2015 Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu +8 more
core
Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation [PDF]
, 2015 We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52.
Antonini, Giovanni +8 more
core +1 more source
Which Patients With Dysfunctional Voiding Respond Well to Sacral Neuromodulation? ICI‐RS 2025
Neurourology and Urodynamics, EarlyView.ABSTRACT Aims Dysfunctional voiding (DV) is characterised by fluctuating or intermittent urinary flow during voiding in neurologically normal individuals. Given the different definitions used and heterogeneous pathophysiologies, outcomes following sacral neuromodulation/sacral nerve stimulation (SNM/SNS) are variably reported.
Jalesh N. Panicker +8 more
wiley +1 more source
Anesthetic Considerations in a Patient with Myotonic Dystrophy for Hip Labral Repair
Case Reports in Anesthesiology, 2017 Myotonic Dystrophy (DM) affects multiple organ systems. Disorders such as hyperthyroidism, progressive musculoskeletal weakness, cardiac dysrhythmias, hypoventilation, and cognitive-behavioral disorders may be present in these patients.
Ramon Go, David Wang, Danielle Ludwin
doaj +1 more source
Pattern Dystrophy of the Macula in a Case of Steinert Disease [PDF]
, 2013 IntroductionMyotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.Case ReportA 41-year-old female with type 1 myotonic dystrophy ...
Dolz-Marco, Rosa +4 more
core +2 more sources
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Oropharyngeal dysphagia in the myotonic dystrophy: phonoaudiological evaluation and nasofibrolaryngoscopical analysis [PDF]
, 2001 We herein present twenty myotonic dystrophy of Steinert patients with the main objective to evaluate and classify the oropharyngeal swallowing by the phonoaudiological clinical and nasofibrolaryngoscopical analysis. The age of the patients varied from 12
Chiappetta, Ana Lúcia de Magalhães Leal +4 more
core +3 more sources
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
Disease Models & Mechanisms, 2017 Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA-dominant disorders.
Ludovic Arandel +17 more
doaj +1 more source
Mitochondrial Dysfunction in Repeat Expansion Diseases
Antioxidants, 2023 Repeat expansion diseases are a group of neuromuscular and neurodegenerative disorders characterized by expansions of several successive repeated DNA sequences. Currently, more than 50 repeat expansion diseases have been described.
Alberto Giménez-Bejarano +4 more
doaj +1 more source
Clinical Genetics, EarlyView.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source