Results 51 to 60 of about 7,623 (172)

Thrombospondin-4 deletion does not exacerbate muscular dystrophy in β-sarcoglycan-deficient and laminin α2 chain-deficient mice

Scientific Reports
Muscular dystrophy is a group of genetic disorders that lead to muscle wasting and loss of muscle function. Identifying genetic modifiers that alleviate symptoms or enhance the severity of a primary disease helps to understand mechanisms behind disease ...
Paula Zarén, Kinga I. Gawlik
doaj   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Desmin, a crucial intermediate filament in muscle cells, maintains structural integrity in cardiac muscle and provides stability to striated muscle cells. Mutations in the DES gene lead to desminopathies, causing diverse cardiac and skeletal myopathies.
Saeideh Kavousi, Farzad Kamali, Bahareh Rabbani, Mehrdad Behmanesh, Nejat Mahdieh, Mehrdad Noruzinia   +5 more
wiley   +1 more source

Case report: A single novel calpain 3 gene variant associated with mild myopathy

Frontiers in Genetics
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described.
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis, Marina Grandis   +20 more
doaj   +1 more source

A Clinical Study Shows Safety and Efficacy of Autologous Bone Marrow Mononuclear Cell Therapy to Improve Quality of Life in Muscular Dystrophy Patients

Cell Transplantation, 2013
Muscular dystrophy is a genetic disorder with no definite cure. A study was carried out on 150 patients diagnosed with muscular dystrophy. These included Duchenne muscular dystrophy, limb-girdle muscular dystrophy, and Becker muscular dystrophy variants.
Alok Sharma M.S., M.Ch., Hemangi Sane, Prerna Badhe, Nandini Gokulchandran, Pooja Kulkarni, Mamta Lohiya, Hema Biju, V. C. Jacob   +7 more
doaj   +1 more source

DNA-Mediated Gene Therapy in a Mouse Model of Limb Girdle Muscular Dystrophy 2B

Molecular Therapy: Methods & Clinical Development, 2017
Mutations in the gene for dysferlin cause a degenerative disorder of skeletal muscle known as limb girdle muscular dystrophy 2B. To achieve gene delivery of plasmids encoding dysferlin to hind limb muscles of dysferlin knockout mice, we used a vascular ...
Julia Ma, Christophe Pichavant, Haley du Bois, Mital Bhakta, Michele P. Calos   +4 more
doaj   +1 more source

Safety, Tolerability, Pharmacokinetics, Food Effect of Ribitol, and Its Effect on QTcF in Healthy Adults: First‐in‐Human, Randomized, Double‐Blind (Sponsor Unblinded), Placebo‐Controlled Studies

Clinical Pharmacology in Drug Development, Volume 15, Issue 8, August 2026.
Abstract Limb‐girdle muscle dystrophy Type R9 (LGMDR9), also known as LGMD Type 2I, is a rare genetic disease caused by partial loss of function of fukutin‐related protein (FKRP) enzyme which glycosylates alpha‐dystroglycan, thereby stabilizing myocytes during contraction.
Daniel D. Gretler, Athiwat Hutchaleelaha, Uma Sinha, Kristen Rickert, Doug Sproule   +4 more
wiley   +1 more source

Three case series involving progresive motor deficit [PDF]

Romanian Journal of Neurology, 2016
The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana, Alina Anghel, Iuliana Nicola-Antoniu, Ioan Buraga   +3 more
doaj   +1 more source

Dnajb5 From Antarctic Fish Reveals a Redox‐Sensitive Mechanism Coordinating Muscle Regeneration via mTORC1 and HDAC4

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 4, August 2026.
ABSTRACT Background Dnajb5, a member of the heat shock protein family, has not been previously reported to play a role in muscle differentiation. We identify Dnajb5 as a negative regulator of myogenesis via mammalian target of rapamycin (mTOR) and histone deacetylase 4 (HDAC4) signalling, functioning as a central controller of muscle growth and ...
Sun‐Hee Cho, Min‐Kyung Choi, Mi‐Ock Baek, Hyeon‐Hee Son, Binh Thanh Nguyen, Min‐Jung Kang, Il‐Chan Kim, Jin‐Hyoung Kim, Mee‐Sup Yoon   +8 more
wiley   +1 more source

Universal Proteomic Signature After Exercise‐Induced Muscle Injury in Muscular Dystrophies

Annals of Clinical and Translational Neurology
Objective Several neuromuscular disorders (NMDs) are characterized by progressive muscle damage and are marked by the elevation of circulating muscle proteins from activity‐related injury.
Mads G. Stemmerik, Benjamin Barthel, Nanna R. Andersen, Sofie V. Skriver, Alan J. Russell, John Vissing   +5 more
doaj   +1 more source