Adult polyglucosan body disease: A case report of a manifesting heterozygote

Muscle and Nerve

Volumn 32, Issue 5, 2005, Pages 675-681

  Ubogu, Eroboghene E ^a,b   Hong, Stacey Tay Kiat ^c   Akman, Hasan Orhan ^c   Dimauro, Salvatore ^c   Katirji, Bashar ^a   Preston, David C ^a   Shapiro, Barbara E ^a  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b LOUIS STOKES CLEVELAND VA MEDICAL CENTER   (United States)

^c NEUROLOGICAL INSTITUTE   (United States)

Author keywords

Glycogen brancher enzyme gene; Glycogen storage disease; Leukodystrophy; Motor neuron disease; Peripheral neuropathy; Polyglucosan bodies

Indexed keywords

GLYCOGEN; SERINE; TYROSINE;

ADULT; ARTICLE; BLADDER DYSFUNCTION; CASE REPORT; CHROMOSOME 3; CLINICAL FEATURE; COGNITIVE DEFECT; ELECTRODIAGNOSIS; GAIT DISORDER; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MOTOR NEURON DISEASE; MUSCLE WEAKNESS; NERVE BIOPSY; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; POINT MUTATION; POLYGLUCOSAN BODY DISEASE; PRIORITY JOURNAL; RARE DISEASE; SENSORY DYSFUNCTION; SURAL NERVE;

1,4-ALPHA-GLUCAN BRANCHING ENZYME; AGED; BASE SEQUENCE; BRAIN; CHROMOSOMES, HUMAN, PAIR 3; DIAGNOSIS, DIFFERENTIAL; GLUCANS; GLYCOGEN STORAGE DISEASE TYPE IV; HETEROZYGOTE; HUMANS; INCLUSION BODIES; JEWS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION;

EID: 27144531035     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20384     Document Type: Article

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