Myoadenylate deaminase deficiency: Clinico-pathological and molecular study of a series of 27 Spanish cases

Clinical Neuropathology

Volumn 28, Issue 2, 2009, Pages 136-142

  Teijeira, S ^a   San Millan B ^a   Fernandez J M ^a   Rivas, E ^a   Vleitez I ^a   Miranda, S ^a   Gonzalez F ^a   Navarro, C ^a  

^a UNIVERSITY HOSPITAL COMPLEX OF VIGO   (Spain)

Author keywords

AMPD1 gene; Exercise intolerance; HyperCKemia; Metabolic myopathy; Myoadenylate deaminase deficiency

Indexed keywords

ADENOSINE MONOPHOSPHATE DEAMINASE; CREATINE KINASE;

ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY; ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; ELECTROMYOGRAM; ELECTROPHYSIOLOGY; EXERCISE TOLERANCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; METABOLIC DISORDER; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE DISEASE; MUSCLE FATIGUE; MUSCLE METABOLISM; MYALGIA; PRIORITY JOURNAL; SPAIN; BLOOD; DNA SEQUENCE; ELECTROMYOGRAPHY; ENZYMOLOGY; EXERCISE TEST; GENETICS; METABOLISM; MIDDLE AGED; MUSCLE; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AMP DEAMINASE; CHILD; CHILD, PRESCHOOL; CREATINE KINASE; ELECTROMYOGRAPHY; EXERCISE TEST; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLES; MUSCULAR DISEASES; MUTATION; SEQUENCE ANALYSIS, DNA; SPAIN; YOUNG ADULT;

EID: 65349173032     PISSN: 07225091     EISSN: None     Source Type: Journal    
DOI: 10.5414/npp28136     Document Type: Article

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