Results 31 to 40 of about 7,623 (172)

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists.
Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev   +16 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source

The relative frequency of common neuromuscular diagnoses in a reference center

Arquivos de Neuro-Psiquiatria
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests ...
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista Junior, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas   +12 more
doaj   +1 more source

The limb-girdle muscular dystrophies—Diagnostic strategies

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2007
The limb-girdle muscular dystrophies are a group of disorders where our understanding of their underlying molecular basis has made huge strides over the past years, revealing great heterogeneity at the clinical and molecular level. The availability of direct protein and/ or gene based approaches to diagnosis means that these disorders can now be ...
Bushby, Kate, Norwood, Fiona, Straub, Volker   +2 more
openaire   +3 more sources

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Limb-girdle muscular dystrophies in India: A review

Annals of Indian Academy of Neurology, 2017
Limb-girdle muscular dystrophies (LGMDs) are common in India. Information on LGMDs has been gradually evolving in the recent years. This information is scattered in case series and case studies. The aim of this study is to collate available Indian information on LGMDs and put it in perspective.
Satish V Khadilkar, Hinaben Dayalal Faldu, Sarika Bapuso Patil, Rakesh Singh   +3 more
openaire   +3 more sources

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy

Molecular Genetics and Metabolism Reports, 2020
Glycogen storage disease type XV (GSD XV) is a recently described muscle glycogenosis due to glycogenin-1 (GYG1) deficiency characterized by the presence of polyglucosan bodies on muscle biopsy (Polyglucosan body myopathy-2, PGBM2). Here we describe a 44 
Claire Lefeuvre, Stéphane Schaeffer, Robert-Yves Carlier, Maxime Fournier, Françoise Chapon, Valérie Biancalana, Guillaume Nicolas, Edoardo Malfatti, Pascal Laforêt   +8 more
doaj   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source