Caveolinlopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases

Neurology

Volumn 62, Issue 4, 2004, Pages 538-543

  Woodman, S E ^a   Sotgia, F ^a   Galbiati, F ^b   Minetti, C ^c   Lisanti, Michael P ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 3; CAV3 PROTEIN, HUMAN; CAVEOLIN; CREATINE KINASE;

AUTOSOMAL DOMINANT DISORDER; CREATINE KINASE BLOOD LEVEL; DISTAL MYOPATHY; ELECTRON MICROSCOPY; GENE MUTATION; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; RIPPLING MUSCLE DISEASE; SYNDROME DELINEATION; AGED; AMINO ACID SEQUENCE; BLOOD; CHEMISTRY; CHILD; COMPARATIVE STUDY; DOMINANT GENE; FEMALE; GENETICS; GENOTYPE; MALE; MOLECULAR GENETICS; MUSCLE CONTRACTION; MUTATION; NEUROMUSCULAR DISEASE; PHENOTYPE; PHYSIOLOGY; PRESCHOOL CHILD; SARCOLEMMA; ULTRASTRUCTURE;

AGED; AMINO ACID SEQUENCE; CAVEOLIN 3; CAVEOLINS; CHILD; CHILD, PRESCHOOL; CREATINE KINASE; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE CONTRACTION; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NEUROMUSCULAR DISEASES; PHENOTYPE; SARCOLEMMA;

EID: 1342267006     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.62.4.538     Document Type: Review

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