Results 81 to 90 of about 1,662 (201)

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy.

PLoS ONE, 2018
Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently
Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V Cervera, Jose M Millan, Laia Pedrola   +13 more
doaj   +1 more source

Modelling myopathies in zebrafish

, 2016
Muscle diseases, or myopathies, are a group of rare congenital diseases that severely incapacitate the patients and in some cases are fatal. Most of these diseases result from mutations in genes that code for proteins of the sarcomere, the contractile ...
Rodrigues Vaz, Raquel
core  

Nemaline myopathy.

Archives of pathology & laboratory medicine, 1978
Nemaline myopathy occurred sporadically in a 59-year-old woman. She had slowly progressive weakness. A muscle biopsy specimen showed nemaline rods, increased variation in fiber size, apparent loss of Type IIb fiber differentiation, and a "moth-eaten" pattern of the intermyofibrillar network.
S M, Greenwood, F J, Viozzi
openaire   +3 more sources

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

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

Nemaline Myopathy

Pediatric Neurology Briefs, 1988
A boy, 5 years of age, with nemaline myopathy complicated by respiratory failure and hypertrophic cardiomyopathy is reported from the Albany Medical College, Albany, NY.
openaire   +4 more sources

Nemaline myopathy: description of an adult onset case.

, 2002
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle ...
Dotti M, Malandrini A, Mondelli M, Federico A, Gambelli S, Ginanneschi F   +5 more
core  

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

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