Familial adult-onset Pompe disease associated with unusual clinical and histological features

Acta Myologica

Volumn 32, Issue 2, 2013, Pages 85-90

  Maggi, Lorenzo ^a   Salerno, Franco ^a   Bragato, Cinzia ^a   Saredi, Simona ^a   Blasevich, Flavia ^a   Maccagnano, Elio ^a   Pasanisi, Barbara ^a   Danesino, Cesare ^b   Mora, Marina ^a   Morandi, Lucia ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

Author keywords

Bulbar symptoms; Globular inclusions; Pompe disease

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADULT; ARTICLE; BULBAR PARALYSIS; CASE REPORT; CELL VACUOLE; CLINICAL EVALUATION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CYTOPLASM; DISEASE COURSE; DYSPHAGIA; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; ENZYME REPLACEMENT; EXTENSOR MUSCLE; FAMILIAL ADULT ONSET POMPE DISEASE; FASCICULATION; FOLLOW UP; FORCED VITAL CAPACITY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HYPOTROPHY; IMMUNOHISTOCHEMISTRY; LEG MUSCLE; LIMB WEAKNESS; LORDOSIS; MALE; MIDDLE AGED; MOTOR NERVE CONDUCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE TISSUE; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NONINVASIVE VENTILATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORBICULARIS OCULI MUSCLE; SCOLIOSIS; SIBLING; TONGUE DISEASE; TONGUE HYPOTROPHY; TONGUE WEAKNESS; WALKING DIFFICULTY; BIOPSY; BULBAR SYMPTOMS; DIFFERENTIAL DIAGNOSIS; FEMALE; GLOBULAR INCLUSIONS; METHODOLOGY; ONSET AGE; PATHOLOGY; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

BULBAR SYMPTOMS; GLOBULAR INCLUSIONS; POMPE DISEASE;

AGE OF ONSET; BIOPSY; DEGLUTITION DISORDERS; DIAGNOSIS, DIFFERENTIAL; ELECTROMYOGRAPHY; ENZYME REPLACEMENT THERAPY; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; SEVERITY OF ILLNESS INDEX; SIBLINGS; TONGUE DISEASES; TREATMENT OUTCOME;

EID: 84894436265     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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