Clinical significance and neuropathology of primary MADD in C34-T and G468-T mutations of the AMPD1 gene

Clinical Neuropathology

Volumn 24, Issue 2, 2005, Pages 77-85

  Fischer, S ^a   Drenckhahn, C ^a   Wolf, C ^a   Eschrich, K ^a   Kellermann, S ^a   Froster, U G ^a   Schober, R ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

AMPD1 gene; MADD; Metabolic myopathies; Myoadenylate deaminase deficiency; Purine nucleotide cycle

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE;

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY; ARTICLE; BLOOD SAMPLING; CHEMICAL ANALYSIS; CLINICAL ARTICLE; EXON; FEMALE; GENE MUTATION; HETEROZYGOSITY; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INBORN ERROR OF METABOLISM; INFORMATION PROCESSING; MALE; MALIGNANT HYPERTHERMIA; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE DISEASE; MUSCLE WEAKNESS; MYALGIA; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL; RHABDOMYOLYSIS;

ADULT; AGED; AMP DEAMINASE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; METABOLISM, INBORN ERRORS; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION;

EID: 15244354397     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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