Results 21 to 30 of about 5,189 (209)

Three case series involving progresive motor deficit [PDF]

Romanian Journal of Neurology, 2016
The muscular dystrophies are a group of inherited, non-inflammatory disorders, consisting of progressive muscle wasting, without peripheral or central nerve involvement.
Bogdan Pana, Alina Anghel, Iuliana Nicola-Antoniu, Ioan Buraga   +3 more
doaj   +1 more source

Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy

Case Reports in Neurological Medicine, 2013
Limb-girdle muscular dystrophies (LGMDs) is a heterogeneous group of muscular dystrophies that mostly affect the pelvic and shoulder girdle muscle groups.
Baiba Lace, Inna Inashkina, Ieva Micule, Inta Vasiljeva, Maruta Solvita Naudina, Jurgis Strautmanis, Janis Stavusis, Eriks Jankevics   +7 more
doaj   +1 more source

Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

Frontiers in Neuroscience, 2021
Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles.
Qian Chen, Qian Chen, Wen Zheng, Hongbo Xu, Yan Yang, Zhi Song, Lamei Yuan, Lamei Yuan, Hao Deng, Hao Deng, Hao Deng   +10 more
doaj   +1 more source

The analysis of the clinical and tool parameters characterizing a cardiomyopathyat various forms of the progressing muscular dystrophies [PDF]

Саратовский научно-медицинский журнал, 2017
Purpose: studying of clinical and tool characteristics of cardiomyopathies at various forms of the progressing muscular dystrophies. Material and methods. There had been 103 patients with hereditary forms of the progressing muscular dystrophies examined,
Poverennova I.E., Zakharov A.V., Chernikova V.V.   +2 more
doaj  

Genetic screening of an endemic mutation in the DYSF gene in an isolated, mountainous population in the Republic of Dagestan

Molecular Genetics & Genomic Medicine, 2023
Background Dysferlinopathy has a high prevalence in relatively isolated ethnic groups where consanguineous marriages are characteristic and/or the founder effect exists.
Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev   +16 more
doaj   +1 more source

Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B

Nature Communications, 2019
Fibroadipogenic precursor cells (FAPs) contribute to fibrosis and adipogenic replacement in muscular dystrophies. Here, the authors show that FAPs contribute to adipogenic loss in mouse models of limb girdle muscular dystrophy 2B via a mechanism ...
Marshall W. Hogarth, Aurelia Defour, Christopher Lazarski, Eduard Gallardo, Jordi Diaz Manera, Terence A. Partridge, Kanneboyina Nagaraju, Jyoti K. Jaiswal   +7 more
doaj   +1 more source

A case of paraplegia due to limb girdle muscular dystrophy with coexisting gitelman’s syndrome

Asian Journal of Medical Sciences, 2016
Muscular dystrophies are a rare group of disorders affecting the skeletal muscles, which are progressive, hereditary and degenerative. A sudden worsening of the condition should raise the possibility of hypokalemia, followed by its evaluation and ...
Robin George Manappallil
doaj   +1 more source

Cardiomyopathy of limb-girdle muscular dystrophy

Journal of the American College of Cardiology, 1994
This study sought to find an association between dilated cardiomyopathy and limb-girdle muscular dystrophy.Cardiomyopathy has been seen in various neuromuscular disorders, but it has not been recognized to be associated with limb-girdle muscular dystrophy.We investigated three sisters with well documented limb-girdle dystrophy and congestive heart ...
Mascarenhas, Daniel A.N., Spodick, David H., Chad, David A., Gilchrist, James, Townes, Philip L., Degirolami, Umberto, Mudge, Gilbert H., Maki, Dennis W., Bishop, Richard L.   +8 more
openaire   +2 more sources

Nonmechanical Roles of Dystrophin and Associated Proteins in Exercise, Neuromuscular Junctions, and Brains

Brain Sciences, 2015
Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM).
Bailey Nichols, Shin'ichi Takeda, Toshifumi Yokota   +2 more
doaj   +1 more source

Myocardial Contractile Dysfunction is Present Without Histopathology in a Mouse Model of Limb-Girdle Muscular Dystrophy-2F and is Prevented after Claudin-5 Virotherapy

Frontiers in Physiology, 2016
Mutations in several members of the dystrophin glycoprotein complex lead to skeletal and cardiomyopathies. Cardiac care for these muscular dystrophies consists of management of symptoms with standard heart medications after detection of reduced whole ...
Nima Milani-Nejad, Eric J Schultz, Jessica L Slabaugh, Paul M L Janssen, Jill A. Rafael-Fortney   +4 more
doaj   +1 more source