Results 21 to 30 of about 690 (122)

Integrated Approach to Diagnosing Limb-Girdle Muscular Dystrophies in Resource-Limited Settings. [PDF]

Hum Mutat
Limb‐girdle muscular dystrophies (LGMD) are a genetically heterogeneous group of neuromuscular disorders characterized by overlapping clinical features, including progressive muscle weakness and wasting, elevated creatine kinase (CK) levels, and motor and skeletal abnormalities.
Yousaf H, Khalid LB, Ahmed A, Ghumman RZ, Hassan S, Zahra H, Zafar G, Rubab K, Azakai H, Khan HN, Mahmood Q, Ali A, Mian BA, Ali Z, Raza M, Bano S, Mukhtiar K, Abdullah U, Ibrahim SH, Baig SM, Toft M, Kirmani S, Iqbal Z, Fatima A.   +23 more
europepmc   +2 more sources

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +2 more sources

Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis

Acta Paediatrica, Volume 112, Issue 4, Page 846-853, April 2023., 2023
Abstract Aim The aim of this study was to conduct a metabolic and nutritional assessment of children with neuromuscular disorders, including the investigation of the liver and bone mineral density. Methods In this observational study, we included 44 children with neuromuscular disorders.
Marie Mostue Naume, Marianne Hørby Jørgensen, Christina Engel Høi‐Hansen, Alfred Peter Born, John Vissing, Lise Borgwardt, Dorte Marianne Rohde Stærk, Mette Cathrine Ørngreen   +7 more
wiley   +1 more source

Congenital muscular dystrophy type 1A with residual merosin expression [PDF]

Korean Journal of Pediatrics, 2014
Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal ...
Hyo Jeong Kim, Young-Chul Choi, Hyung Jun Park, Young-Mock Lee, Heung Dong Kim, Joon Soo Lee, Hoon-Chul Kang   +6 more
doaj   +1 more source

Pyruvate prevents the onset of the cachectic features and metabolic alterations in myotubes downregulating STAT3 signaling

The FASEB Journal, Volume 36, Issue 11, November 2022., 2022
Abstract Cachexia is a systemic disease associated with several pathologies, including cancer, that leads to excessive weight loss due to enhanced protein degradation. Previously, we showed that cachectic features in myotubes are provoked by a metabolic shift toward lactic fermentation.
Michele Mannelli, Tania Gamberi, Rachele Garella, Francesca Magherini, Roberta Squecco, Tania Fiaschi   +5 more
wiley   +1 more source

Autophagy in muscle regeneration: potential therapies for myopathies

Journal of Cachexia, Sarcopenia and Muscle, Volume 13, Issue 3, Page 1673-1685, June 2022., 2022
Abstract Autophagy classically functions as a physiological process to degrade cytoplasmic components, protein aggregates, and/or organelles, as a mechanism for nutrient breakdown, and as a regulator of cellular architecture. Its biological functions include metabolic stress adaptation, stem cell differentiation, immunomodulation and diseases ...
Wei Chen, Yushi Chen, Yuxi Liu, Xinxia Wang   +3 more
wiley   +1 more source

Fibrogenesis in LAMA2-Related Muscular Dystrophy Is a Central Tenet of Disease Etiology

Frontiers in Molecular Neuroscience, 2020
LAMA2-related congenital muscular dystrophy, also known as MDC1A, is caused by loss-of-function mutations in the alpha2 chain of Laminin-211. Loss of this protein interrupts the connection between the muscle cell and its extracellular environment and ...
Anthony Accorsi, Megan L. Cramer, Mahasweta Girgenrath   +2 more
doaj   +1 more source

Protein homeostasis in LGMDR9 (LGMD2I) – The role of ubiquitin–proteasome and autophagy–lysosomal system

Neuropathology and Applied Neurobiology, Volume 47, Issue 4, Page 519-531, June 2021., 2021
By means of vastus lateralis biopsies derived from patients with LGMDR9, we have investigated pathological mechanisms underlying muscle wasting in this disorder. Our results show that activation of atrophy in LGMDR9 appears to be independent of the activation of E3 ubiquitin ligases, Atrogin‐1 and MuRF1. Skeletal muscle of LGMDR9 patients has a protein
Veronika Franekova, Hilde I. Storjord, Gunnar Leivseth, Øivind Nilssen   +3 more
wiley   +1 more source

Distinct roles for laminin globular domains in laminin alpha1 chain mediated rescue of murine laminin alpha2 chain deficiency. [PDF]

PLoS ONE, 2010
BACKGROUND: Laminin alpha2 chain mutations cause congenital muscular dystrophy with dysmyelination neuropathy (MDC1A). Previously, we demonstrated that laminin alpha1 chain ameliorates the disease in mice.
Kinga I Gawlik, Mikael Akerlund, Virginie Carmignac, Harri Elamaa, Madeleine Durbeej   +4 more
doaj   +1 more source

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy. [PDF]

PLoS ONE, 2017
Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality.
Sarah J Smith, Jeffrey C Wang, Vandana A Gupta, James J Dowling   +3 more
doaj   +1 more source