A G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian population

Neuromuscular Disorders

Volumn 12, Issue 6, 2002, Pages 558-565

  Gross, M ^a   Rotzer E ^a   Kolle P ^a   Mortier, W ^b   Reichmann, H ^c   Goebel, H H ^d   Lochmuller H ^a   Pongratz, D ^a   Mahnke Zizelman, D K ^e   Sabina, R L ^e  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Muskelzentrum Ruhrgebiet   (Germany)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

Metabolic myopathy; Myoadenylate deaminase deficiency; Substitution mutation

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE; PURINE NUCLEOTIDE;

ADULT; ALLELE; AMPD1 GENE; ARTICLE; CASE REPORT; CATABOLISM; CAUCASIAN; DIAGNOSTIC TEST; ENZYME DEFICIENCY; GENE; GENOTYPE; HEART DISEASE; HUMAN; MALE; METABOLIC DISORDER; MUSCLE BIOPSY; MYALGIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE; WESTERN BLOTTING;

ALLELES; AMP DEAMINASE; BLOTTING, WESTERN; DNA PROBES; DNA, COMPLEMENTARY; ELECTROMYOGRAPHY; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENOTYPE; GLYCINE; HUMANS; METABOLIC DISEASES; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; THREONINE;

EID: 0036314121     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00008-1     Document Type: Article

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