Results 61 to 70 of about 139 (121)

Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes

BMC Cell Biology, 2007
Background About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged
Machesky Laura M, Rommelaere Heidi, Bathe Friederike S   +2 more
doaj   +1 more source

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

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

In Memoriam: W. King Engel, MD (1930–2025)

Annals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Marinos C. Dalakas, Steven P. Ringel
wiley   +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

Monoclonal gammopathy of undetermined significance with associated necrotizing myopathy: a case report and review of the literature

European Journal of Case Reports in Internal Medicine
Background: Monoclonal gammopathies encompass many types of plasma cell proliferative disorders ranging from benign to malignant. Monoclonal gammopathies that meet diagnostic criteria for monoclonal gammopathies of undetermined significance (MGUS) but ...
Anna Bode, Oscar Borja Montes, Karen SantaCruz, Abu Baker Sheikh   +3 more
doaj   +1 more source

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

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

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