Results 141 to 150 of about 924,459 (214)

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  

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

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

The clinicopathological characteristics analysis and differential diagnosis of muscle disorder cases with nemaline⁃shaped structure

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng, LI Chun⁃yao, LIU Xiang⁃yi, GUO Wen⁃yang, MENG Qing⁃yang, ZHONG Yan⁃feng, ZHANG Ying⁃shuang   +6 more
doaj   +1 more source

Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy. [PDF]

Sci Rep, 2023
Magyar ZÉ, Hevesi J, Groom L, Dirksen RT, Almássy J.   +4 more
europepmc   +1 more source

Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension. [PDF]

BMJ Case Rep, 2023
Vardhan A, Singh D, Singh D, Tripathi S, Kumar M, Singhai A.   +5 more
europepmc   +1 more source

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Acta Neuropathologica, 2017
V. Schartner, N. Romero, S. Donkervoort, S. Treves, P. Munot, T. Pierson, I. Dabaj, E. Malfatti, I. Zaharieva, F. Zorzato, O. Abath, G. Brochier, X. Lornage, B. Eymard, A. Taratuto, J. Böhm, Hernan Gonorazky, L. Ramos-Platt, Lucy H. Feng, R. Phadke, D. Bharucha-Goebel, C. Sumner, M. Bui, E. Lacène, M. Beuvin, C. Labasse, N. Dondaine, R. Schneider, Julie D. Thompson, A. Boland, J. Deleuze, E. Matthews, A. N. Pakleza, C. Sewry, V. Biancalana, S. Quijano-Roy, F. Muntoni, M. Fardeau, C. Bonnemann, J. Laporte   +39 more
semanticscholar   +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
core  

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. [PDF]

Brain, 2023
Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H.   +32 more
europepmc   +1 more source

Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus. [PDF]

Case Rep Genet, 2023
Balasundaram P, Avulakunta ID, Delfiner L, Levy P, Forman KR.   +4 more
europepmc   +1 more source