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Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene [PDF]

Brain, 2013
In 2001, we reported linkage of an autosomal dominant form of limb-girdle muscular dystrophy, limb-girdle muscular dystrophy 1F, to chromosome 7q32.1-32.2, but the identity of the mutant gene was elusive.
Josep Gámez Carbonell, Juan J Vílchez, Antonio Luis Andreu   +2 more
exaly   +2 more sources

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Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy

Human Gene Therapy, 2021
Louise R Rodino-Klapac, Rachael Potter, Eric R Pozsgai   +2 more
exaly  

Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related

International Journal of Molecular Sciences, 2021
Amets Saenz, Valle Palomo, Ana Martinez   +2 more
exaly  

A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B

International Journal of Molecular Sciences, 2022
Patrizia Spadafora, Luigi Citrigno, Antonio Qualtieri   +2 more
exaly  

DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1

Molecular Therapy - Nucleic Acids, 2023
Andrew Findlay, Sara K Pittman
exaly  

Prevalence of Pain within Limb Girdle Muscular Dystrophy R9 and Implications for Other Degenerative Diseases

Journal of Clinical Medicine, 2021
Anna G Mayhew, Volker Straub, Lindsay Murphy   +2 more
exaly  

Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients

Brain and Development, 2023
Federico Zara, Claudio Bruno, Giorgio Tasca   +2 more
exaly  

Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion

Human Gene Therapy, 2019
Lindsay Alfano, Zarife Sahenk, Linda Lowes   +2 more
exaly