Molecular analysis of Spanish patients with AMP deaminase deficiency

Muscle and Nerve

Volumn 23, Issue 8, 2000, Pages 1175-1178

  Rubio, Juan C ^a   Martín, Miguel A ^a   Del Hoyo, Pilar ^a   Bautista, Juan ^b   Campos, Yolanda ^a   Segura, Dolores ^b   Navarro, Carmen ^c   Ricoy, Jose R ^a   Cabello, Ana ^a   Arenas, Joaquin ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^c Department of Pathology   (Spain)

Author keywords

AMP deaminase; Exercise intolerance; McArdle's disease; Mitochondrial myopathy; Myophosphorylase

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE; GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; METABOLIC DISORDER; MITOCHONDRIAL MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; SPAIN;

ADOLESCENT; ADULT; AMP DEAMINASE; CODON, NONSENSE; FEMALE; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOSITIS; PHENOTYPE; SPAIN;

EID: 0033862332     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-4598(200008)23:8<1175::AID-MUS3>3.0.CO;2-M     Document Type: Article

References (13)

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