Results 121 to 130 of about 260,514 (183)

Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 5, October 2026.
ABSTRACT Background Quantitative muscle MRI is increasingly used to assess structural muscle damage in inherited myopathies, but its application in primary mitochondrial myopathies (PMM) has not been systematically evaluated in large cohorts. Because PMM are clinically and genetically heterogeneous, objective imaging biomarkers are needed to quantify ...
Ana Bermejo‐Moriñigo, Paloma Martín‐Jiménez, Violeta González‐Méndez, Laura Bermejo‐Guerrero, Luz Edith Ochoa, Cristina Martín‐Arriscado, Andrea Alcalá‐Galiano, Cristina Casado‐Pérez, María Navarro‐Riquelme, Rocío Garrido‐Moraga, Adrián González Quintana, Alberto Blázquez, Cristina Domínguez‐González   +12 more
wiley   +1 more source

Respiratory Failure Associated With Mutations in the RYR1 Gene: A Case Report

Clinical Case Reports
A novel RYR1 mutation (c.C5701T:p.Q1901X) was identified in a 51‐year‐old female presenting with acute respiratory failure as the primary manifestation of congenital myopathy.
Chenliang Zhao, Yongxiang Li, Jinhui Li, Jianrong Xiong   +3 more
doaj   +1 more source

Exploring the Value of Quantitative Muscle Ultrasound in Neuromuscular Junction Disorders: A Pilot Study

Muscle &Nerve, Volume 74, Issue 4, Page 1281-1287, October 2026.
ABSTRACT Introduction/Aims Quantitative muscle ultrasound (QMUS) is a validated technique for assessing muscle pathology, yet its role in disorders primarily affecting the neuromuscular junction (NMJ) remains unclear. This pilot study aimed to explore whether QMUS is associated with structural muscle changes in patients with acquired or genetic NMJ ...
Artor Pogosean, Maarika Liik, Nens van Alfen, Anna Rostedt Punga   +3 more
wiley   +1 more source

Exercise capacity in RYR1-related myopathies

Orphanet Journal of Rare Diseases
Background Pathogenic variations affecting the ryanodine receptor 1 (RYR1) gene may result in a variety of neuromuscular disorders, collectively known as RYR1-related myopathies.
Lisa M. K. Chin, Joshua J. Todd, Irene C. Chrismer, Jessica W. Witherspoon, Minal Jain, Melissa Waite, Katherine G. Meilleur, Bart Drinkard, Tokunbor A. Lawal   +8 more
doaj   +1 more source

Differences in outcomes of combined heart-liver transplantation by primary cardiac diagnosis

JHLT Open
Background: Combined heart-liver transplantation (CHLT) is a complex procedure with rising demand and is subject to ongoing assessment. Here, we provide an update on indications, patient outcomes, and risk factors.
Ye In Christopher Kwon, BA, Emily Dunbar, MD, Kelly Wright, BS, Graham Gardner, MD, Matthew Ambrosio, MS, Inna F. Tchoukina, MD, Keyur B. Shah, MD, David Bruno, MD, Amit Sharma, MD, Josue Chery, MD, Vigneshwar Kasirajan, MD, Zubair A. Hashmi, MD   +11 more
doaj   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source

Molecular and Clinico-pathological Investigation of Congenital Myopathies

Congenital myopathies are inherited disorders causing muscle weakness from birth. Some types lead to early death of the affected child, while others are compatible with life to adulthood.

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A review of congenital heart block [PDF]

, 2003
Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity.
Glickstein, J., Buyon, Jill P., Friedman, Deborah M., Duncanson, L.J.   +3 more
core  

Propylparaben impairs muscle development in zebrafish via the PI3K-mTOR pathway

Ecotoxicology and Environmental Safety
Congenital myopathies are genetically inherited muscle disorders that impair muscle function and strength. While primarily linked to genetic mutations, emerging evidence suggests environmental toxins may exacerbate disease progression.
Yong Huang, Runhao Zhu, Yan Lei, Liting Liu, Huan Xu, Xiaomei Chen, Yuwei Zhao, Jing Hu, Yebing Zhong, Bo Cheng, Xiaochang Huang, Huiqiang Lu, Zhenjiang Zech Xu   +12 more
doaj   +1 more source

Consanguinity and the risk of congenital heart disease [PDF]

, 2012
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L., Shieh, J.T.C., Bittles, A.H.   +2 more
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