Results 91 to 100 of about 15,356 (198)

Skeletal and Cardiac Myopathy with Acquired Factor X Deficiency in a Patient with Monoclonal Gammopathy of Clinical Significance: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research
Monoclonal gammopathies include several types of plasma cell proliferative disorders, which might be benign to malignant. Monoclonal Gammopathy of Clinical Significance (MGCS) refers to small plasma cell clones that cause organ damage without meeting ...
Pragya Garg, S Meghana, Neeraj Jain, Lalit Duggal   +3 more
doaj   +1 more source

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study

Nursing Reports
Background: Nemaline myopathy is a rare congenital neuromuscular disease associated with progressive weakness and frequent respiratory complications. In emergency situations, families often serve as the first and only responders. The aim of this study is
Raúl Merchán Arjona, Juan Francisco Velarde-García, Enrique Pacheco del Cerro, Alfonso Meneses Monroy   +3 more
doaj   +1 more source

Protein Structure-Function Relationship at Work:Learning from Myopathy Mutations of the Slow Skeletal Muscle Isoform of Troponin T

Frontiers in Physiology, 2016
Troponin T (TnT) is the sarcomeric thin filament anchoring subunit of the troponin complex in striated muscles. A nonsense mutation in exon 11 of the slow skeletal muscle isoform of TnT (ssTnT) gene (TNNT1) was found in the Amish populations in ...
Anupom Mondal, J-P Jin
doaj   +1 more source

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 [PDF]

, 2000
The nemaline myopathies are characterized by weakness and eosinophilic, rodlike (nemaline) inclusions in muscle fibers. Amish nemaline myopathy is a form of nemaline myopathy common among the Old Order Amish. In the first months of life, affected infants
Morton, D. Holmes, Biesecker, Leslie G., Agarwala, Richa, Schäffer, Alejandro A., Kelley, Richard I., Francomano, Clair A., Johnston, Jennifer J., Koch, Thorsten, Crawford, Thomas O.   +8 more
core   +1 more source

HIV-associated nemaline myopathy manifesting as bent spine syndrome

HIV-associated myopathies include HIV-associated polymyositis, inclusion body myositis, diffuse infiltrative lymphocytosis syndrome and sporadic late-onset nemaline myopathy (HIV-NM).
Jameson, Andrew, Nasir, Ali Zagham
core   +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

Myopathology of Congenital Myopathies: Bridging the Old and the New [PDF]

, 2019
Congenital myopathies (CM) are a genetically heterogeneous group of neuromuscular disorders most commonly presenting with neonatal/childhood-onset hypotonia and muscle weakness, a relatively static or slowly progressive disease course, and originally ...
Phadke, R
core   +1 more source

Core myopathies and risk of malignant hyperthermia

, 2009
In this article, we analyze myopathies with cores, for which an association to malignant hyperthermia (MH) has been suggested. We discuss the clinical features, the underlying genetic defects, subsequent effects on cellular calcium metabolism, and in ...
Rueffert, Henrik, Girard, Thierry, Lehmann-Horn, Frank, Hopkins, Philip M., Klingler, Werner   +4 more
core   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common

Molecular Genetics & Genomic Medicine
Background Targeted next generation sequence analyses in a cohort of 961 previously described patients with clinically suspected Duchene muscular dystrophy (DMD) revealed that 145/961 (15%) had variants in genes associated with other muscular dystrophies
Priya Karthikeyan, Shalini H. Kumar, Arati Khanna‐Gupta, Lakshmi Bremadesam Raman   +3 more
doaj   +1 more source