Results 91 to 100 of about 1,440 (186)

Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism. [PDF]

, 2005
Background: The dysferlin gene has recently been shown to be involved in limb girdle muscular dystrophy type 2B and its allelic disease, Miyoshi myopathy, both of which are characterised by an active muscle degeneration and regeneration process ...
CENACCHI, GIOVANNA, DE GIORGI LB, FANIN, MARINA, FANIN M, BADIALI DE GIORGI L, CENACCHI G, ANGELINI, CORRADO, ANGELINI C.   +7 more
core   +1 more source

PRDX5 Regulates Mitochondrial Function and Nuclear Spreading in Myogenesis and Acts With PRDX3 to Delay Muscle Aging

Journal of Cachexia, Sarcopenia and Muscle, Volume 16, Issue 6, December 2025.
ABSTRACT Background Skeletal muscle aging is associated with oxidative stress and mitochondrial dysfunction. Peroxiredoxins (PRDXs), particularly PRDX3 and PRDX5, are antioxidant enzymes that are uniquely localized to mitochondria. While PRDX3 has been reported to play a role in maintaining mitochondrial function in muscle, the specific function of ...
Joonho Suh, Je‐Hyun Eom, Jongmin Baik, Wonn Shim, Max A. Tischfield, Hyun Ae Woo, Yun‐Sil Lee   +6 more
wiley   +1 more source

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

BMC Musculoskeletal Disorders
Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once ...
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev   +11 more
doaj   +1 more source

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb‐Girdle Muscular Dystrophy in an Isolated Uruguayan Population

European Journal of Neurology, Volume 32, Issue 9, September 2025.
LGMD D3 in Uruguay presents as a slowly progressive adult‐onset scapulo‐pelvic‐peroneal dystrophy. Pathogenic variant c.1132G>C p.(Asp378His) was confirmed in all participants. This is the largest LGMD D3 cluster and first report of sex‐dependent age of onset.
Elisa Demicheli, Andrea Zamora, Nury Sánchez, Valentina Colistro, Beatriz Vicente, Emilio Salazar, Mercedes Chiesa, Anahi Santos, Florencia Benvenuto, Mónica Sans, María Cristina Vázquez   +10 more
wiley   +1 more source

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

The FEBS Journal, Volume 292, Issue 18, Page 4854-4869, September 2025.
Three skeletal muscle diseases are linked to HMGCR, a key enzyme in cholesterol synthesis. These diseases include a muscular dystrophy associated with pathogenic variants in the HMGCR gene, statin‐associated myopathy, and autoimmune anti‐HMGCR myopathy.
Mekala Gunasekaran, Hannah R. Littel, Natalya M. Wells, Johnnie Turner, Gloriana Campos, Sree Venigalla, Elicia A. Estrella, Partha S. Ghosh, Audrey L. Daugherty, Seth A. Stafki, Louis M. Kunkel, A. Reghan Foley, Sandra Donkervoort, Carsten G. Bönnemann, Laura Toledo‐Bravo de Laguna, Andres Nascimento, Daniel Natera‐de Benito, Isabelle Draper, Christine C. Bruels, Christina A. Pacak, Peter B. Kang   +20 more
wiley   +1 more source

A case of Miyoshi myopathy in clinical practice

Клинический разбор в общей медицине
Miyoshi myopathy belongs to the group of dysferlinopathies, rare myopathies, and therefore remains undiagnosed for a long time and currently has no etiopathogenetic treatment.
Nina B. Poletaeva, Olga V. Teplyakova, Olga V. Teplyakova, Polina K. Tsaplina   +3 more
doaj   +1 more source

Proteomic investigation of the molecular pathophysiology of dysferlinopathy

PROTEOMICS, 2006
Abstract Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb‐girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi. The dysferlin gene product is a membrane‐associated protein belonging to the ferlins family of proteins.
S. De Palma, L. Morandi, E. Mariani, S. Begum, P. Cerretelli, R. Wait, C. Gelfi   +6 more
openaire   +6 more sources

The Role of Repeat Skeletal Muscle Biopsy: Indications, Yield and Outcomes

Muscle &Nerve, Volume 72, Issue 2, Page 217-223, August 2025.
ABSTRACT Introduction/Aims Muscle biopsy performed to investigate weakness and/or pain may be nondiagnostic and prompt repeat biopsy. We determined the indications and yield of rebiopsy. Methods Patients who underwent > 1 muscle biopsy (South Australia, 2000–2023) were identified.
Thomas Khoo, Sarah Saxon, Barbara Koszyca, Bernice Gutschmidt, Vidya Limaye   +4 more
wiley   +1 more source

Two cases with dysferlinopathy

Türk Nöroloji Dergisi, 2011
Dysferlinopathy includes a rare spectrum of muscle disease characterized by two main phenotypes: Miyoshi myopathy(MM) and Limb Girdle muscular dystrophy(LGMD 2B) and results from a mutation of the gene that codes dysferline protein (DYSF gene, 2p13). In this report, we present 2 cases with dysferlinopathy whose diagnosis were confirmed by clinical and ...
Gaye Eryaşar, Yaprak Seçil, Yeşim Beckmann, Ayşen İnceoğlu Kendir, A. Gülden Diniz, Mustafa Başoğlu   +5 more
openaire   +2 more sources

Open-Source Tools for Neuromuscular Electrical Stimulation in Mouse Models: A Methodological Validation Study

Muscles
Neuromuscular electrical stimulation (NMES) is integral to studying muscle function in healthy and dystrophic mice. Certain commercial electrodes and laboratory stimulators used for NMES in mice are no longer in production. We developed and/or tested low-
Bana H. Odeh, Amanda L. Wellman, Michael Ameye, Zachary Atwood, Luke Gray, Aiswarya Saravanan, Havish Poluru, Morium Begam, Takako I. Jones, Renuka Roche, Joseph A. Roche   +10 more
doaj   +1 more source