A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease

Neuromuscular Disorders

Volumn 9, Issue 1, 1999, Pages 34-37

  Bruno, Claudio ^a   Tamburino, Lucia ^a   Kawashima, Noriko ^c   Andreu, Antonio L ^a,b   Shanske, Sara ^a   Hadjigeorgiou, George M ^a   Kawashima, Atsushi ^c   DiMauro, Salvatore ^a  

^a Columbia Univ Coll Phys Surgs ^*  (United States)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c SAPPORO CITY GENERAL HOSPITAL   (Japan)

Author keywords

McArdle's disease; Myophosphorylase gene; Nonsense mutation

Indexed keywords

GLYCOGEN PHOSPHORYLASE; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAPHY; FEMALE; GENETIC HETEROGENEITY; GENOME; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; HUMAN TISSUE; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON;

AGED; FEMALE; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; JAPAN; MALE; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION, MISSENSE; PEDIGREE; PHOSPHORYLASES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0033036142     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00096-0     Document Type: Article

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