Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families

Neuromuscular Disorders

Volumn 12, Issue 9, 2002, Pages 824-827

  Hadjigeorgiou, Georgios M ^a,b   Sadeh, Menachem ^c   Musumeci, Olimpia ^b   Dabby, Ron ^c   De Girolami, Laura ^b   Naini, Ali ^b   Papadimitriou, Alexandros ^a   Shanske, Sara ^b   DiMauro, Salvatore ^b  

^a UNIVERSITY OF THESSALY   (Greece)

^b H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases   (United States)

^c WOLFSON MEDICAL CENTER   (Israel)

Author keywords

McArdle's disease; Mutation; Myophosphorylase; Phosphorylase

Indexed keywords

GENOMIC DNA; GLYCOGEN; GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; EXON; FAMILY STUDY; FATHER; FEMALE; GENE MUTATION; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MOTHER; MUSCLE BIOPSY; NONSENSE MUTATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; CODON, NONSENSE; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE; HOMOZYGOTE; HUMANS; JEWS; MIDDLE AGED; MOLECULAR BIOLOGY; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; YEMEN;

EID: 0036837208     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00028-7     Document Type: Article

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