A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease

Neuromuscular Disorders

Volumn 9, Issue 3, 1999, Pages 171-173

  Andreu, Antonio L ^a,b   Bruno, Claudio ^a   Tamburino, Lucia ^a   Gamez, Josep ^b   Shanske, Sara ^a   Cervera, Carlos ^b   Navarro, Carmen ^c   Dimauro, Salvatore ^a  

^a Dept Neurol 4 420 Coll Phys S ^*  (United States)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL DO MEIXOEIRO   (Spain)

Author keywords

Asn684Tyr; McArdle's disease; Myophosphorylase

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; CASE REPORT; CODON; DNA SEQUENCE; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; ASPARAGINE; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MUTATION, MISSENSE; PHOSPHORYLASES; SPAIN; TYROSINE;

EID: 0032769632     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(98)00125-4     Document Type: Article

References (11)

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