نتایج جستجو برای: muscular dystrophy

تعداد نتایج: 52759  

2014
Naga Manjusha

Muscular dystrophy is one of the rare diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. There are many different types of muscular dystrophy based on the age of onset, severity and pattern of inheritance, of which duchenne and becker muscular dystrophies being more prevalent. The absence or abnormality of dystrophin, a protein which fo...

2011
Hideya Mizuno Akinori Nakamura Yoshitsugu Aoki Naoki Ito Soichiro Kishi Kazuhiro Yamamoto Masayuki Sekiguchi Shin'ichi Takeda Kazuo Hashido

Duchenne muscular dystrophy (DMD) is a lethal X-linked disorder caused by mutations in the dystrophin gene, which encodes a cytoskeletal protein, dystrophin. Creatine kinase (CK) is generally used as a blood-based biomarker for muscular disease including DMD, but it is not always reliable since it is easily affected by stress to the body, such as exercise. Therefore, more reliable biomarkers of...

Journal: :Arquivos De Neuro-psiquiatria 2023

Background: The TTN gene is related to a broad phenotype spectrum including tibial muscular dystrophy, hereditary myopathy with respiratory failure, limb girdle dystrophy 2J and dilated or hypertrophic cardiomyopathy. In 2014, Chauveau et al, described phenotypes cardiac septal defects, left ventricular non-compaction, Emery-Dreifuss arthrogryposis. 2020, Savarese showed most of patients bialle...

Journal: :Journal of child neurology 2010
Ching H Wang Carsten G Bonnemann Anne Rutkowski Thomas Sejersen Jonathan Bellini Vanessa Battista Julaine M Florence Ulrike Schara Pamela M Schuler Karim Wahbi Annie Aloysius Robert O Bash Christophe Béroud Enrico Bertini Kate Bushby Ronald D Cohn Anne M Connolly Nicolas Deconinck Isabelle Desguerre Michelle Eagle Brigitte Estournet-Mathiaud Ana Ferreiro Albert Fujak Nathalie Goemans Susan T Iannaccone Patricia Jouinot Marion Main Paola Melacini Wolfgang Mueller-Felber Francesco Muntoni Leslie L Nelson Jes Rahbek Susana Quijano-Roy Caroline Sewry Kari Storhaug Anita Simonds Brian Tseng Jiri Vajsar Andrea Vianello Reinhard Zeller

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been a...

Journal: :Molecular biology of the cell 2009
Michelle S Steen Marvin E Adams Yan Tesch Stanley C Froehner

Duchenne muscular dystrophy (DMD) and other types of muscular dystrophies are caused by the loss or alteration of different members of the dystrophin protein complex. Understanding the molecular mechanisms by which dystrophin-associated protein abnormalities contribute to the onset of muscular dystrophy may identify new therapeutic approaches to these human disorders. By examining gene expressi...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1966
A E Emery F E Dreifuss

Duchenne muscular dystrophy affects mainly young boys and is usually inherited as an X-linked recessive trait. The disease begins in infancy or early childhood and is characterized by weakness of the lower limbs and pelvic girdle musculature almost invariably associated with swollen calves ('pseudohypertrophy'). The weakness gradually progresses and ultimately the child becomes confined to a wh...

2012
Deanna Maree Horvath

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Journal: :Thorax 1997
P F De Bruin J Ueki A Bush Y Khan A Watson N B Pride

BACKGROUND There is little information on the morphometric characteristics of the diaphragm in patients with Duchenne muscular dystrophy. METHODS The thickness of the diaphragm was measured at the zone of apposition using B mode ultrasonography in 10 boys with Duchenne muscular dystrophy of mean (SD) age 10.3 (1.3) years and 12 normal controls of mean (SD) age 11.3 (2.0) years during relaxati...

2017

Different muscular dystrophies and myopathies can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. More than 50 loci have been associated to different forms of limb-girdle muscular dystrophy (LGMD) alone, making accurate diagnosis and genetic counseling a real challenge. This comprehensive panel is designed to achieve the highest clinical yield and enable the diff...

2012
Jennifer Morgan Hala Alameddine

Muscular dystrophies are inherited disorders in which muscle fibers are unusually susceptible to damage, leading to progressive loss of muscle structure and function. Some types of muscular dystrophy affect heart muscles, other involuntary muscles and other organs. The most common form of muscular dystrophy, Duchenne Muscular Dystrophy (DMD), is due to genetic deficiency of the protein dystroph...

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