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Desmin-related myofibrillar myopathy is a hereditary disorder caused by pathogenic variants in the DES gene (MIM*125660), altering desmin, a muscle-specific intermediate filament which is crucial for ...

Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these ...

1 Introduction. Desmin, a muscle-specific intermediate filament protein, serves as a critical structural scaffold that is essential for maintaining the stability of muscle cells ().In the OMIM ...

Objective To elucidate the common and distinct clinical features of immune-mediated necrotising myopathy (IMNM), also known as necrotising autoimmune myopathy associated with autoantibodies against ...

Mutations, A147T and A165V, within the ZM of ZASP-LΔex10 cause myofibrillar myopathy, but the mechanism is unknown. We have prepared these proteins, their ABR, and the respective mutant variants in ...

It’s been an intense year for 1-year-old Kai Shepard, living with myopathy. “…in and out of the hospital since he was like three months old,” said Vanessa Villanueva, Kai’s mom ...

In this scientific statement from the American Heart Association, experts in the field of cardiomyopathy (heart muscle disease) in children address 2 issues: the most current understanding of the ...

Cite this: New Data at EULAR Signal Advances in RA, Myopathy, Gout - Medscape - June 27, 2025. Comments . Commenting is limited to medical professionals. To comment please .

BA helped in the conception of the case, formulated the main draft for the submission in each section. He also conducted and transcribed the patient interview. BA further contributed to the ...