Results 31 to 40 of about 10,549 (211)

Transgenic Overexpression of LARGE Induces alpha-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle [PDF]

, 2010
Background: LARGE is one of seven putative or demonstrated glycosyltransferase enzymes defective in a common group of muscular dystrophies with reduced glycosylation of alpha-dystroglycan.
Paul S Sharp, Dominic J. Wells, Ke Liu, Susan C Brown, Sharp, P S, Dominic J Wells, Cirak, S., Sebahattin Cirak, Wells, DJ, Paul S. Sharp, Muntoni, F., Susan C. Brown, Wells, D J, Brockington, M., Cirak, S, Liu, K., Brockington, M, Torelli, S, Brown, SC, Sharp, PS, Muntoni, F, Brown, S C, Sharp, P.S., Torelli, S., Liu, K, Wells, D.J., Silvia Torelli, Brockington, M A, Francesco Muntoni, Martin Brockington, Brown, S.C.   +30 more
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]

, 1981
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core   +1 more source

δ-Sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches

Skeletal Muscle, 2011
Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement.
Blain Alison M, Straub Volker W
doaj   +1 more source

Disease-associated mutations within the yeast DNAJB6 homolog Sis1 slow conformer-specific substrate processing and can be corrected by the modulation of nucleotide exchange factors

Nature Communications, 2022
Here the authors describe mechanisms through which analogous LGMDD1 (Limb-Girdle Muscular Dystrophy Type D1) mutations affect Sis1 (a yeast functional homolog of human DNAJB6) chaperone activity and poison the function of wild-type protein; potentially ...
Ankan K. Bhadra, Michael J. Rau, Jil A. Daw, James A. J. Fitzpatrick, Conrad C. Weihl, Heather L. True   +5 more
doaj   +1 more source

Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy

, 2022
PURPOSETo report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy. METHODSCase report. RESULTSA 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion.
Kennedy, Thomas, Shaheen, Abdulla R, Yannuzzi, Nicolas A, Yannuzzi, Lawrence A   +3 more
core   +1 more source

Rehabilitation Challenges in Limb-Girdle Muscular Dystrophies [PDF]

Balneo and PRM Research Journal, 2021
Limb-girdle muscular dystrophy (LGMD) is a burdensome progressive neuromuscular disease, with a great impact upon quality of life. Unlike other types of neuromuscular dystrophies, which have onset in early childhood and severely limit the life expectancy,
TROFIN Dan, MATEI Daniela, STAMATE Teodor, WALTHER Bild, TROFIN Daniela Marilena   +4 more
doaj   +1 more source

Dismantling Limb-Girdle Muscular Dystrophy [PDF]

, 2017
Muscular dystrophy encompasses a diverse group of genetically determined muscle disorders. The first clinical description of the disorder is attributed to Giovanni Semmola, who, in 1829, described 2 boys affected by a disorder with prominent muscular ...
Narayanaswami, Pushpa
core   +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  

Targeted next‐generation sequencing determined a novel SGCG variant that is associated with limb‐girdle muscular dystrophy type 2C: A case report

Clinical Case Reports, 2023
Limb‐girdle muscular dystrophy‐type 2C (LGMD2C) is caused by mutations in the SGCG gene. Here, we report a case of a 26‐year‐old male who had inactive walking due to proximal muscle weakness.
Nam‐Chung Tran, Tuan Anh Nguyen, Thanh Dat Ta, Thinh Huy Tran, Phuoc‐Dung Nguyen, Chi Dung Vu, Van‐Hung Nguyen, The‐Hung Bui, Thanh Van Ta, Van Khanh Tran   +9 more
doaj   +1 more source

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

Frontiers in Genetics, 2023
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar, Sergi Cesar, Sergi Cesar, Monica Coll, Monica Coll, Victoria Fiol, Victoria Fiol, Victoria Fiol, Anna Fernandez-Falgueras, Anna Fernandez-Falgueras, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Anna Iglesias, Anna Iglesias, Isaac Moll, Isaac Moll, Isaac Moll, Alexandra Perez-Serra, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Carles Ferrer-Costa, Bernat del Olmo, Bernat del Olmo, Marta Puigmulè, Marta Puigmulè, Marta Puigmulè, Mireia Alcalde, Mireia Alcalde, Laura Lopez, Laura Lopez, Ferran Pico, Ferran Pico, Rubén Berrueco, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Laura Carrera-García, Laura Carrera-García, Jessica Exposito-Escudero, Jessica Exposito-Escudero, Carlos Ortez, Carlos Ortez, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano   +68 more
doaj   +1 more source