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Journal Article
Journal Article
Journal Article
Journal Article
BMC Musculoskeletal Disorders, ISSN 1471-2474, 2012, Volume 13, Issue 1, pp. 43 - 43
Background: Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutations in the CAPN3 gene and complete lack of functional calpain 3 leads to the most... 
INF | Vimentin | Limb girdle muscular dystrophy | Calpain 3 | Neonatal myosin heavy chain | Muscle regeneration | LGMD2A PATIENTS | CELLS | RHEUMATOLOGY | IDENTIFICATION | HAND-HELD DYNAMOMETRY | SKELETAL-MUSCLE | IN-VITRO | GENE | MUTATIONS | ORTHOPEDICS | EXPRESSION | Immunohistochemistry | Humans | Middle Aged | Male | Calpain - genetics | Young Adult | Muscular Dystrophies, Limb-Girdle - genetics | Muscular Dystrophy, Duchenne - physiopathology | Regeneration - genetics | Muscle, Skeletal - chemistry | Adult | Female | Muscular Dystrophies, Limb-Girdle - pathology | Myosin Heavy Chains - analysis | Severity of Illness Index | Genetic Predisposition to Disease | Myogenin - analysis | Muscular Dystrophies, Limb-Girdle - physiopathology | Biomarkers - analysis | Calpain - analysis | Linear Models | Muscular Dystrophy, Duchenne - pathology | Blotting, Western | Muscle Proteins - genetics | Proteins - genetics | Vimentin - analysis | Phenotype | Muscular Dystrophies, Limb-Girdle - metabolism | Dystrophin - genetics | Biopsy | Muscle Proteins - analysis | Muscle, Skeletal - physiopathology | Adolescent | Denmark | MyoD Protein - analysis | Muscular Dystrophy, Duchenne - metabolism | Muscle, Skeletal - pathology | Muscular Dystrophy, Duchenne - genetics | Mutation | Apoptosis | Physiological aspects | Muscles | Regeneration | Calpain | Genetic aspects | Research | Studies | Muscular system | Muscular dystrophy | Index Medicus
Journal Article
Journal Article
Muscle and Nerve, ISSN 0148-639X, 11/2009, Volume 40, Issue 5, pp. 883 - 889
Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in the fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of... 
Heart | Pathology | α-dystroglycan | Glycosylation | FKRP | LGMD-2I | Muscular Dystrophies, Limb-Girdle - classification | Humans | Adolescent | Female | Male | Heart Failure - pathology | Muscle, Skeletal - pathology | Muscular Dystrophies, Limb-Girdle - pathology | Child | Index Medicus | glycosylation | pathology | heart
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 213 - 221
Journal Article