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distal myopathy (9) 9
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Revue Neurologique, ISSN 0035-3787, 02/2012, Volume 168, Issue 2, pp. 135 - 141
Journal Article
Neurology India, ISSN 0028-3886, 07/2008, Volume 56, Issue 3, pp. 379 - 385
Background: Miyoshi myopathy (MM) and limb girdle muscular dystrophy (LGMD2B) are distinct clinical entities because different muscle groups are involved at... 
Distal myopathy | Miyoshi myopathy | LGMD2B | dysferlinopathy | Dysferlinopathy | GENE | GIRDLE MUSCULAR-DYSTROPHY | CHROMOSOME 2P | LOCUS | NEUROSCIENCES | Age Factors | Humans | Middle Aged | Male | Muscle Proteins - deficiency | Muscular Dystrophies - genetics | Young Adult | Membrane Proteins - deficiency | Muscular Diseases - physiopathology | Muscular Dystrophies, Limb-Girdle - genetics | Muscular Dystrophies - immunology | Adult | Female | Muscular Dystrophies, Limb-Girdle - pathology | Muscular Dystrophies, Limb-Girdle - immunology | Disability Evaluation | Creatine Kinase - blood | Membrane Proteins - genetics | Muscular Dystrophies, Limb-Girdle - physiopathology | Dysferlin | Muscular Diseases - pathology | Muscular Dystrophies - pathology | India | Muscle Proteins - genetics | Muscular Diseases - immunology | Muscle, Skeletal - physiopathology | Adolescent | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Muscular Dystrophies - physiopathology | Case studies | Immunohistochemistry | Medical research | Causes of | Medicine, Experimental | Development and progression | Genetic aspects | Diagnosis | Research | Muscle proteins | Health aspects | Muscular dystrophy | Variables | Studies | Illnesses | Standard deviation | Muscular system | Mutation | Patients | Neurological disorders | Independent sample
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2010, Volume 18, Issue 2, pp. 137 - 145
In muscle tissue the protein caveolin-3 forms caveolae - flask-shaped invaginations localized on the cytoplasmic surface of the sarcolemmal membrane. Caveolae... 
Distal myopathy | Hypertrophic cardiomyopathy | Rippling muscle disease | Limb girdle muscular dystrophies | Hyperckemia | Caveolins | FAMILIAL ISOLATED HYPERCKAEMIA | LATE SODIUM CURRENT | CAV3 GENE | NITRIC-OXIDE SYNTHASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GIRDLE MUSCULAR-DYSTROPHY | rippling muscle disease | distal myopathy | TUMOR MICROVASCULAR PERMEABILITY | SKELETAL-MUSCLE | caveolins | MUTANT CAVEOLIN-3 | GENETICS & HEREDITY | MISSENSE MUTATION | hypertrophic cardiomyopathy | hyperckemia | limb girdle muscular dystrophies | Cardiomyopathy, Hypertrophic - genetics | Caveolin 3 - genetics | Muscular Diseases - metabolism | Cardiomyopathy, Hypertrophic - metabolism | Humans | Phosphofructokinase-1, Muscle Type - metabolism | Fatty Acids, Nonesterified - metabolism | Distal Myopathies - genetics | Muscular Dystrophies, Limb-Girdle - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Distal Myopathies - metabolism | Muscular Diseases - genetics | Mutation | Caveolin 3 - metabolism | Disease | Creatine kinase | Cardiomyopathy | Smooth muscle | Biology | Kinases | Muscular dystrophy | Proteins | Signal transduction | Genetics | Physiology | Heart diseases | Invaginations | Phenotypes | Cardiac muscle | Caveolae | Caveolin | Environmental factors | Permeability | Coronary heart disease | Skeletal muscle | Serum levels | Musculoskeletal system | Neurology | Transduction | Dystrophy | Cancer | Myopathy | Practical Genetics
Journal Article
09/2011, ISBN 9780470654569, 5
Whereas myopathies typically present with proximal weakness, the distal myopathies present with distal weakness in the feet or hands with atrophy in the lower... 
genetic muscle disease | distal muscular dystrophy | distal myopathy | muscle weakness | Distal myopathy | Distal muscular dystrophy | Muscle weakness | Genetic muscle disease
Book Chapter
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