Results 1 to 10 of about 10,549 (211)

Limb-Girdle Muscular Dystrophies

Pediatric Neurology Briefs, 2003
The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
doaj   +5 more sources

Limb-Girdle Muscular Dystrophy

Pediatric Neurology Briefs, 2001
Sixty-one members of a large Spanish kindred with autosomal dominant limb-girdle muscular dystrophy (LGMD), spanning 5 generations, were examined at the Hospital Vail d’Hebron, Barcelona and other centers.
J Gordon Millichap
doaj   +2 more sources

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 10 (LGMD,10), Caused by a Novel Homozygous Variant in the TTN Gene [PDF]

International Medical Case Reports Journal
Omar Ahmed Alghamdi,1 Osama Obaid,2 Ahmed Gamal Sayed,3 Hania Farhan,3 Jamal Sayed1 1Department of Pediatrics, Security Forces Hospital Makkah, (SFHM), Makkah, Saudi Arabia; 2Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia;
Alghamdi OA, Obaid O, Sayed AG, Farhan H, Sayed J   +4 more
doaj   +2 more sources

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.
Maria Jesus Melia, Juan J Vílchez, Josep Gámez   +2 more
exaly   +2 more sources

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   +2 more sources

Impaired myogenesis in limb girdle muscular dystrophy type 2B [PDF]

Scientific Reports
The skeletal muscle tissue has a remarkable capacity of growth and regeneration. Fusion of myoblasts and myotubes elongation are fundamental processes in muscle development.
Lucas Santos Souza, Renata Ishiba, Antonio Fernando Ribeiro-Junior, Isabela Aquino Zogbi, Dounia Bouragba, Anne Bigot, Vincent Mouly, Mariz Vainzof   +7 more
doaj   +2 more sources

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD) [PDF]

Cells
Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and ...
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo   +9 more
doaj   +2 more sources

Аutosomal recessive limb-girdle muscular dystrophy type 2A: two cases in Ukraine with different age of onset

Medičnì Perspektivi, 2021
The paper reports on two cases of young women from Ukraine with autosomal recessive limb-girdle muscular dystrophy type 2A with different age of symptoms onset and an absence of any family history presented with gradual onset of proximal muscle weakness
Yu.H. Antipkin, L.H. Kyrylova, O.O. Miroshnykov, O.O. Yuzva, V.V. Orzheshkovskyi, A.F. Nechay   +5 more
doaj   +1 more source

Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain‐3 Deficiency [PDF]

Human Mutation
Thomas Krag, Lauren Brady, Camille Verebi   +2 more
exaly   +2 more sources

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source