ALLMedicine™ Limb-girdle Muscular Dystrophy Center

Feb 17th, 2021 - The impacts of potentially treatable psychological parameters on quality of life are relatively unreported in adults with Facioscapulohumeral, Becker and Limb-girdle muscular dystrophy. The purpose of this study was to compare quality of life, psy...

Feb 1st, 2021 - Dysferlin is a sarcolemmal protein present in muscle cells. It is responsible for muscle membrane repair. Dysferlin gene (DYSF) mutation, resulting in deficiency in this protein, is termed dysferlinopathy. Clinically, it manifests as early adultho...

Jan 18th, 2021 - Limb-girdle muscular dystrophy R1 (LGMD R1) is caused by mutations in the CAPN3 gene and is characterized by progressive muscle loss, impaired mitochondrial function and reductions in the slow oxidative gene expression programme. Myostatin is a ne...

Jan 7th, 2021 - A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified. Muscle biopsy histopathology, immunofluorescence microscopy, and ...

Dec 22nd, 2020 - Limb-girdle muscular dystrophy type 2D/R3 (LGMD2D/R3) is a progressive muscular dystrophy that manifests with muscle weakness, respiratory abnormalities, and in rare cases cardiomyopathy. LGMD2D/R3 is caused by mutations in the SGCA gene resulting...

Feb 17th, 2021 - The impacts of potentially treatable psychological parameters on quality of life are relatively unreported in adults with Facioscapulohumeral, Becker and Limb-girdle muscular dystrophy. The purpose of this study was to compare quality of life, psy...

Feb 1st, 2021 - Dysferlin is a sarcolemmal protein present in muscle cells. It is responsible for muscle membrane repair. Dysferlin gene (DYSF) mutation, resulting in deficiency in this protein, is termed dysferlinopathy. Clinically, it manifests as early adultho...

Jan 18th, 2021 - Limb-girdle muscular dystrophy R1 (LGMD R1) is caused by mutations in the CAPN3 gene and is characterized by progressive muscle loss, impaired mitochondrial function and reductions in the slow oxidative gene expression programme. Myostatin is a ne...

Jan 7th, 2021 - A cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria, and markedly elevated serum creatine kinase activities were identified. Muscle biopsy histopathology, immunofluorescence microscopy, and ...

Dec 22nd, 2020 - Limb-girdle muscular dystrophy type 2D/R3 (LGMD2D/R3) is a progressive muscular dystrophy that manifests with muscle weakness, respiratory abnormalities, and in rare cases cardiomyopathy. LGMD2D/R3 is caused by mutations in the SGCA gene resulting...

Jun 5th, 2012 - DESTIN, FLA. – An increasing number of patients are presenting with muscular dystrophy in adulthood.

Mar 9th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...

Mar 9th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...