Results 21 to 30 of about 7,623 (172)

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

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

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  

LIMB GIRDLE MUSCULAR DYSTROPHY

Pakistan Armed Forces Medical Journal, 2008
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Khalid Niazi, Shakeel Mirza
doaj   +2 more sources

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

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Dystrophin in Limb-Girdle Dystrophy

Pediatric Neurology Briefs, 1991
Dystrophin content in muscle was analyzed by both immunofluorescence and immunoblot in 41 patients with a clinical diagnosis of limb-girdle muscular dystrophy seen at the National Institute of Neuroscience, Tokyo, Japan over a 12-year period.
J Gordon Millichap
doaj   +1 more source

Refining Shoulder Diagnostics: A Technical Note on Scapular Physical Examination

Arthroscopy Techniques, EarlyView.
Abstract Normal scapulothoracic function relies on a delicate balance among several periscapular muscles and is essential for shoulder motion. Disturbance in this balance can lead to abnormal motion, which can impair shoulder function, leading to pain and discomfort.
Farah Selman, Nicholas Peter James Perry, Diego J. Restrepo, David Coleman, Joaquin Sanchez‐Sotelo   +4 more
wiley   +1 more source