Rigid spine syndrome revealing late-onset Pompe disease

Neuromuscular Disorders

Volumn 20, Issue 2, 2010, Pages 128-130

  Laforêt, Pascal ^a   Doppler, Valérie ^b   Caillaud, Catherine ^c,d   Laloui, Kenza ^b   Claeys, Kristl G ^a   Richard, Pascale ^a   Ferreiro, Ana ^a,e,f   Eymard, Bruno ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c Université Paris Descartes ^*  (France)

^d INSTITUT COCHIN   (France)

^e INSERM   (France)

^f SORBONNE UNIVERSITÉ   (France)

Author keywords

Glycogenosis type II; Pompe disease; Rigid spine

Indexed keywords

ALPHA GLUCOSIDASE;

ADULT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAM; ENZYME ACTIVITY; GENE DELETION; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 2; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KYPHOSIS; LIMB WEAKNESS; LORDOSIS; MALE; MUSCLE BIOPSY; MYOPATHY; ONSET AGE; PRIORITY JOURNAL; RIGID SPINE SYNDROME; SPINAL MUSCULAR ATROPHY; WALKING DIFFICULTY;

AGE FACTORS; AGE OF ONSET; ALPHA-GLUCOSIDASES; BIOPSY; DNA MUTATIONAL ANALYSIS; GAIT DISORDERS, NEUROLOGIC; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; LEUKOCYTES; MALE; MIDDLE AGED; MOBILITY LIMITATION; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PERIODIC ACID-SCHIFF REACTION; SPINAL DISEASES; SPINE;

EID: 75549084616     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.11.006     Document Type: Article

References (12)

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