Results 31 to 40 of about 475 (173)

Atrofia muscular espinal y bulbar Enfermedad de Kennedy. Aspectos clínicos y genéticos

REVISTA MEDICA DEL URUGUAY, 2019
Summary: Spinal and bulbar muscular atrophy (SBMA) is a neurological disease characterized by the progressive degeneration of the inferior motor neurones, what results in muscle weakness, atrophy and fasciculations. It possesses a genetic etiology with X-linked recessive inheritance mode, and thus affects men.
Moraes, Mariana, Calvo, Judith, Montano, Nélida, Rodríguez, Ximena, Quadrelli, Roberto, Vaglio, Alicia   +5 more
openaire   +4 more sources

LA MIOSTATINA: REGULADOR DEL CRECIMIENTO MUSCULAR Y ALTERNATIVA PARA LA SALUD

Revista de la Facultad de Medicina Humana, 2017
La miostatina (MSTN) también conocida como la GDF8, es un regulador negativo del crecimiento del musculo esquelético y responsable del correcto desarrollo de la masa muscular.
Cabanillas E., Córdova A., Pineda R.
doaj   +1 more source

Enfermedad inflamatoria muscular

Acta Médica Peruana, 1979
Twenty five patients meeting the Bohaq & Peter's criteria for the diagnosis of either Polymyositis or Dermatomyositis are presented. All but 2 of them were female.  Definitive Dermatomyositis and Polymyositis associated to Connective Tissye Disease were the two larger groups.
Castañeda J. , Oswaldo, de Alarcón , Graciela S.   +1 more
openaire   +2 more sources

Basal Energetics and Phosphocreatine Recovery Kinetics in Ambulatory Boys With Duchenne Muscular Dystrophy

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Basal energetics and phosphocreatine (PCr) recovery kinetics of the lower leg anterior compartment (primarily tibialis anterior; TA) were evaluated at rest and after dorsiflexion muscle contractions in ambulatory boys with Duchenne muscular dystrophy (DMD) and unaffected controls using 31P‐MRS.
Pratiksha P. Awale, Christophor Lopez, Tanja Taivassalo, Krista Vandenborne, Glenn A. Walter, Sean C. Forbes   +5 more
wiley   +1 more source

Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination.

Medisur, 2011
Se presenta el caso de un paciente de 50 años de edad, con 14 años de evolución de manifestaciones clínicas, destacándose las alteraciones musculoesqueléticas de los cuatro miembros con atrofia de las prominencias tenar e hipotenar y de la musculatura de
Rafael Pila Pérez, Víctor Adolfo Holguín Prieto, Leandro Segura Pujol   +2 more
doaj   +2 more sources

A Myocyte‐Enriched Long Non‐Coding RNA NRMLncR Enhances Myogenesis in Mouse

The FASEB Journal, Volume 40, Issue 13, 15 July 2026.
We identified a novel myocyte‐enriched, Notch‐repressed myogenic lncRNA, NRMLncR, that is induced by myogenic regulatory factors (MRFs) during myogenic progression in mouse. NRMLncR localizes to cytoplasmic and nuclear compartments, associates with the RNA‐binding protein CUGBP Elav‐like family member 1 (CELF1), and is linked to neighboring gene Tbx1 ...
Yufen Li, Yumei Zhou, Qing Ying Li, Justine Arrington, Zhengzheng Hu, Mostafa F. Abdelhai, Yubo Wang, Junxiao Ren, Yung‐Yu Cheng, Mingyi Xie, W. Andy Tao, Shihuan Kuang, Feng Yue   +12 more
wiley   +1 more source

Detección de mutaciones causantes de distrofia muscular de Duchenne/Becker: reacción en cadena de la polimerasa multiplex vs. amplificación múltiple dependiente de ligación por sondas

Revista Peruana de Medicina Experimental y Salud Pública, 2019
Las distrofias musculares de Duchenne/Becker son enfermedades raras que reciben poca atención en nuestro medio. El objetivo del presente estudio fue implementar la técnica de amplificación múltiple dependiente de ligación por sondas (MLPA) y demostrar ...
Francia DP Huaman-Dianderas, María Luisa Guevara-Fujita, DIana Rojas Málaga, Alejandro Estrada-Cuzcano, Ricardo Fujita   +4 more
doaj   +1 more source

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, Volume 269, Issue 3, Page 363-380, July 2026.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source

Las enfermedades raras en las patologías neurometabólicas

Arbor: Ciencia, Pensamiento y Cultura, 2018
Las miopatías metabólicas son un grupo de trastornos genéticos que disminuyen la capacidad del músculo esquelético para utilizar sustratos energéticos y sintetizar ATP.
Julio Montoya, Joaquín Arenas, Eduardo Ruiz-Pesini, Miguel A. Martín-Casanueva   +3 more
doaj   +1 more source