Phenotypic variability in a Spanish family with a Caveolin-3 mutation

Journal of the Neurological Sciences

Volumn 276, Issue 1-2, 2009, Pages 95-98

  González Pérez, Paloma ^a   Gallano, Pía ^b   González Quereda, Lidia ^b   Rivas Infante, Eloy ^a   Teijeira, Susana ^c   Navarro, Carmen ^c   Bautista Lorite, Juan ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c HOSPITAL DO MEIXOEIRO   (Spain)

Author keywords

Caveolin 3 gene; Distal myopathy; Hyperckemia; Rippling muscle disease

Indexed keywords

ARGININE; CAVEOLIN 3; GENOMIC DNA; GLUTAMINE; NUCLEOTIDE;

ADULT; AGE DISTRIBUTION; AGED; AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MUSCLE BIOPSY; MUSCLE EXCITATION; MYOPATHY; NEUROLOGIC EXAMINATION; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SARCOLEMMA; SPAIN;

AGED; ARGININE; CAVEOLIN 3; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; GLYCINE; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; NEUROLOGIC EXAMINATION; PHENOTYPE; SPAIN;

EID: 58149156432     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.09.009     Document Type: Article

References (9)

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