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Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Advanced Genetics, Volume 7, Issue 2, June 2026.This review highlights six genetic diseases of the bone, aiming to provide clinicians and researchers with updated information on their diagnosis and treatment. It also includes an assessment of common clinical and radiographic findings, along with pathophysiology related to diseases.
Colin Jones, Ambalangodage C. Jayasuriya
wiley +1 more source
Targeting Mitochondria in Aging‐Related Diseases: Therapeutic Potential and Obstacles
MedComm, Volume 7, Issue 6, June 2026.This article systematically summarized the specific mechanism of aging‐related diseases caused by mitochondrial dysfunction, and summarized the broad‐spectrum treatment methods and disease targeted treatment strategies for mitochondria. At the same time, it also pointed out the dilemma faced by mitochondrial targeted treatment.
Zijie Xiang +12 more
wiley +1 more source
Postepy higieny i medycyny doswiadczalnej (Online), 2012 Congenital myopathies are clinically and genetically heterogeneous disorders characterized by muscle structural abnormalities, muscle weakness and deformities. The clinical spectrum of the disease ranges from severe cases with early death to adult-onset cases with slow progression.
Katarzyna, Robaszkiewicz +1 more
openaire +1 more source
Beyond Membrane Remodeling: Organelle Crosstalk and Convergent Pathology in Centronuclear Myopathy. [PDF]
MusclesAbolibdeh B, Williams CH.
europepmc +1 more source