Association of genetically proven deficiencies of myophosphorylase and AMP deaminase: A second case of 'double trouble'

Neuromuscular Disorders

Volumn 7, Issue 6-7, 1997, Pages 387-389

  Rubio, Juan C ^a   Martín, Miguel A ^a   Bautista, Juan ^b   Campos, Yolanda ^a   Segura, Dolores ^b   Arenas, Joaquín ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

Author keywords

AMP deaminase deficiency; Exercise intolerance; Myoglobinuria; Myophosphorylase deficiency

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE; GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; BIOCHEMISTRY; BONE ATROPHY; CASE REPORT; ENZYME DEFICIENCY; EXERCISE TOLERANCE; FACE MUSCLE; GENE MUTATION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 5; HISTOCHEMISTRY; HUMAN; MALE; MUSCLE WEAKNESS; MYOGLOBINURIA; PARESIS; PHENOTYPE; PRIORITY JOURNAL; SCAPULA;

ADULT; AMP DEAMINASE; DNA; EXERCISE; FATIGUE; HUMANS; MALE; MUSCLE WEAKNESS; MUSCULAR DISEASES; MUTATION; MYOGLOBINURIA; PHOSPHORYLASES; POLYMERASE CHAIN REACTION;

EID: 0030792783     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00095-3     Document Type: Article

References (12)

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