Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease

Journal of Medical Genetics

Volumn 34, Issue 5, 1997, Pages 391-394

  Iyengar, Sudha ^a   Kalinsky, Hagar ^b   Weiss, Sari ^b   Korostishevsky, Misha ^b   Sadeh, Menachem ^c   Zhao, Ying ^a   Kidd, Kenneth K ^a   Bonne Tamir, Batsheva ^b  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b TEL AVIV UNIVERSITY   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

1844+1G A mutation; Glycogen myophosphorylase gene; Haplotype; McArdle disease

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ARTICLE; CHROMOSOME 11; CHROMOSOME 11Q; CLINICAL ARTICLE; CODON; CONSANGUINITY; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SPLICEOSOME;

EID: 0030963038     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.5.391     Document Type: Article

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