Mutations in the acid α-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

Neurology

Volumn 64, Issue 2, 2005, Pages 368-370

  Anneser, J M H ^a   Pongratz, D E ^a   Podskarbi, T ^b   Shin, Y S ^c   Schoser, B G H ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b Inst of Metab Genetic Disease   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE;

ADULT; ARTICLE; ATHEROSCLEROSIS; CARDIOVASCULAR RISK; CASE REPORT; DOPPLER FLOWMETRY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GLYCOGEN STORAGE DISEASE TYPE 2; HEADACHE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MUSCLE WEAKNESS; MYOPATHY; PARESTHESIA; PHENOTYPE; PRIORITY JOURNAL; VASCULAR DISEASE;

EID: 12544260681     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000149528.95362.20     Document Type: Article

References (10)

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