Caveolinopathies: From the biology of caveolin-3 to human diseases

European Journal of Human Genetics

Volumn 18, Issue 2, 2010, Pages 137-145

  Gazzerro, Elisabetta ^a   Sotgia, Federica ^b,c   Bruno, Claudio ^a   Lisanti, Michael P ^b,c   Minetti, Carlo ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Caveolins; Distal myopathy; Hyperckemia; Hypertrophic cardiomyopathy; Limb girdle muscular dystrophies; Rippling muscle disease

Indexed keywords

BETA DYSTROGLYCAN; CAVEOLIN 3; MYOSTATIN;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 3P; CREATINE KINASE BLOOD LEVEL; DISTAL MYOPATHY; ENERGY METABOLISM; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; GENE MUTATION; HUMAN; HYPOGLYCEMIA; LIMB GIRDLE MUSCULAR DYSTROPHY; LONG QT SYNDROME; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE DEVELOPMENT; MUSCLE DISEASE; MUSCLE HYPERTROPHY; MYALGIA; MYOGLOBINURIA; NONHUMAN; PRIORITY JOURNAL; REVIEW; RIPPLING MUSCLE DISEASE; SARCOLEMMA; SUDDEN INFANT DEATH SYNDROME;

CARDIOMYOPATHY, HYPERTROPHIC; CAVEOLIN 3; DISTAL MYOPATHIES; FATTY ACIDS, NONESTERIFIED; HUMANS; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE;

EID: 74449088950     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.103     Document Type: Review

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