Results 71 to 80 of about 1,730 (187)

Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice

Cell Death and Disease, 2022
Muscle repair in dysferlinopathies is defective. Although macrophage (Mø)-rich infiltrates are prominent in damaged skeletal muscles of patients with dysferlinopathy, the contribution of the immune system to the disease pathology remains to be fully ...
A. Farini, L. Tripodi, C. Villa, F. Napolitano, F. Strati, D. Molinaro, F. Facciotti, B. Cassani, Y. Torrente   +8 more
doaj   +1 more source

Table_1_Key biomarkers and latent pathways of dysferlinopathy: Bioinformatics analysis and in vivo validation.DOCX

, 2022
BackgroundDysferlinopathy refers to a group of muscle diseases with progressive muscle weakness and atrophy caused by pathogenic mutations of the DYSF gene.
Ying-hui Li (3313077), Feng Xiao (27219), Jia-ying Bai (13825660), Chun-yan Zhu (565275), Yan Xie (41714), Li Zeng (77324), Song Tan (798605), Kai Chen (129938)   +7 more
core   +1 more source

Are Muscular Dystrophies Cholesterol‐Handling Diseases? Lessons From HMGCR Variants and Statin‐Associated Myopathies

JCSM Communications, Volume 9, Issue 1, January/June 2026.
ABSTRACT Background Muscular dystrophies (MD) are a genetically diverse group of muscle disorders, many of which arise from mutations in genes encoding components of the sarcolemma dystrophin‐associated glycoprotein complex (DGC). Despite their notorious heterogeneity, MDs consistently lead to chronic myofiber weakening, necrosis and loss of muscle ...
Yejin Kang, Pascal Bernatchez
wiley   +1 more source

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

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

Integrated Approach to Diagnosing Limb‐Girdle Muscular Dystrophies in Resource‐Limited Settings

Human Mutation, Volume 2026, Issue 1, 2026.
Limb‐girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders characterized by overlapping clinical features, including progressive muscle weakness and wasting, elevated creatine kinase (CK) levels, and motor and skeletal abnormalities.
Hammad Yousaf, Lubaba Bintee Khalid, Affan Ahmed, Rafia Zafar Ghumman, Shaheer Hassan, Hijab Zahra, Ghazala Zafar, Kinza Rubab, Hazaratullah Azakai, Haq Nawaz Khan, Qamar Mahmood, Asmat Ali, Bilal Ahmad Mian, Zafar Ali, Mohammad Raza, Sanam Bano, Khairunnisa Mukhtiar, Uzma Abdullah, Shahnaz H. Ibrahim, Shahid M. Baig, Mathias Toft, Salman Kirmani, Zafar Iqbal, Ambrin Fatima, Miklos Sahin -Toth   +24 more
wiley   +1 more source

Whole‐Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families

Human Mutation, Volume 2026, Issue 1, 2026.
Background Muscular dystrophies (MDs) are a genetically heterogeneous group of disorders, posing significant diagnostic challenges, especially in populations with high consanguinity. Despite advances in genetic testing, a substantial proportion of patients remain undiagnosed.
Nasibeh Soltani, Zahra Shahbazi, Mohammad Sadegh Fallah, Morteza Karimipoor, Hamideh Bagherian, Samira Dabbagh Bagheri, Tina Shirzadeh, Fatemeh Zafarghandi Motlagh, Gelareh Rabie Salehi, Shahrzad Younesikhah, Sadaf Asnavandi, Razie Zeinali, Ziba Majidi, Sirous Zeinali, Neetu Rawal   +14 more
wiley   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Nicholas H Keep, Keep, Nicholas H., Altin Sula, Sula, Altin, Orengo, C., Ambrose R Cole, Corin Yeats, Yeats, C., Christine Orengo   +9 more
core   +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

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