A novel missense mutation in the caveolin-3 gene in rippling muscle disease

Muscle and Nerve

Volumn 36, Issue 2, 2007, Pages 258-260

  Lorenzoni, Paulo J ^a   Scola, Rosana H ^a   Vieira, Natassia ^b   Vainzof, Mariz ^b   Carsten, Ana L M ^a   Werneck, Lineu C ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Caveolin 3; Molecular analysis; Muscle biopsy; Mutation; Rippling muscle disease

Indexed keywords

CAVEOLIN 3; MUSCLE PROTEIN; NUCLEOTIDE;

ADOLESCENT; ARTICLE; CASE REPORT; ELECTROMYOGRAPHY; EXON; FEMALE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; MUSCLE DISEASE; MUSCLE HYPERTROPHY; MYOPATHY; PRIORITY JOURNAL; RIPPLING MUSCLE DISEASE; SYMPTOMATOLOGY;

ADOLESCENT; CAVEOLIN 3; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; EXONS; FEMALE; HUMANS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION, MISSENSE;

EID: 34547683191     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.20781     Document Type: Article

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