Molecular characterization of McArdle's disease in two large Finnish families

Journal of the Neurological Sciences

Volumn 165, Issue 2, 1999, Pages 121-125

  Bruno, Claudio ^a   Löfberg, Mervi ^b   Tamburino, Lucia ^a   Jänkälä, Heidi ^c   Hadjigeorgiou, George M ^a   Andreu, Antonio L ^a,d   Shanske, Sara ^a   Somer, Hannu ^b   Dimauro, Salvatore ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

Glycogenosis type V; McArdle's disease; Metabolic myopathy; Myophosphorylase deficiency; Nonsense mutation; Splice junction mutation

Indexed keywords

PHOSPHORYLASE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; ELECTROPHORESIS; ENZYME DEFICIENCY; EXON; FEMALE; FINLAND; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; MOLECULAR GENETICS; MUTATION; MYOPATHY; NONSENSE MUTATION; PRIORITY JOURNAL;

ADULT; CODON, NONSENSE; DNA; FEMALE; FINLAND; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MUSCLE, SKELETAL; MUTATION; PEDIGREE; PHOSPHORYLASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANS-SPLICING;

EID: 0345621626     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00091-X     Document Type: Article

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