Results 81 to 90 of about 1,438 (185)

EFFECT OF STRUCTURED EXERCISE REGIMEN ON QUALITY OF LIFE, BALANCE AND STRENGTH ON A PATIENT WITH MIYOSHI MYOPATHY – A CASE REPORT

International Journal of Physiotherapy, 2020
Background: Dysferlinopathy is an autosomal recessive disease seen in adolescence or young adulthood. Miyoshi Myopathy is characterized by weakness and wasting of posterior compartment leg muscles rather than the anterior compartment and distal upper ...
Abhishek Taklekar, Akhil Samson, Tushar Palekar   +2 more
doaj   +1 more source

Metabolic dysregulation contributes to the development of dysferlinopathy. [PDF]

Life Sci Alliance
Dysferlin is a transmembrane protein that plays a prominent role in membrane repair of damaged muscle fibers. Accordingly, mutations in the dysferlin gene cause progressive muscular dystrophies, collectively referred to as dysferlinopathies for which no effective treatment exists. Unexpectedly, experimental approaches that successfully restore membrane
Furrer R, Dilbaz S, Steurer SA, Santos G, Karrer-Cardel B, Ritz D, Sinnreich M, Handschin C.   +7 more
europepmc   +3 more sources

Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies

European Journal of Neurology, Volume 33, Issue 1, January 2026.
This study assesses muscle MRI features for the differential diagnosis of patients with distal myopathies and distal hereditary motor neuropathies (dHMNs). A reticular pattern of fat infiltration, together with diffuse and marked involvement of intrinsic foot muscles, emerged as characteristic of dHMNs.
María Payá, Sofía Portela, Rafael Sivera, Marina Frasquet, Fernando Más‐Estellés, Pilar Martí, Inmaculada Azorín, Karolina Aragon‐Gawinska, María Tárrega, Herminia Argente‐Escrig, Juan F. Vázquez‐Costa, Roger Vilchez, Juan J. Vilchez, Teresa Sevilla, Nuria Muelas   +14 more
wiley   +1 more source

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests [PDF]

, 2019
© 2018 Wiley Periodicals, Inc.Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.
Ángel Sánchez‐Montáñez, Jorge A. Bevilacqua, Garrido, Cristián, Irene Pulido‐Valdeolivas, Suazo, Lionel, Bevilacqua, Jorge A., Cristián Garrido, Susana Quijano‐Roy, Gómez-Andrés, David, Lionel Suazo, Quijano-Roy, Susana, David Gómez‐Andrés, Francina Munell, Pulido-Valdeolivas, Irene, Sánchez-Montáñez, Ángel, Jorge Díaz, Díaz, Jorge, Munell, Francina   +17 more
core   +1 more source

Interplay of Mitochondrial Dynamics, Nutrition, and Vitamins: Evidence From Experimental and Human Studies With Implications for Women’s Health

Oxidative Medicine and Cellular Longevity, Volume 2026, Issue 1, 2026.
Background Nutrition is a key modifiable factor supporting mitochondrial health and is essential for ovarian function and women’s health across the life course. From menarche to menopause, mitochondrial efficiency underpins physiological balance. The menopausal transition is particularly critical, as hormonal and neuroendocrine changes are associated ...
Kunjal Kiran Pai, Shambhavi Shetye, Rakshith Patil, Shravya Acharya, Kishan S. Kulal, Ajeetkumar Patil, Saritha U. Kamath, Anna M. Giudetti   +7 more
wiley   +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

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

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