Phenotypic heterogeneity in two unrelated danon patients associated with the same LAMP-2 gene mutation

Neuropediatrics

Volumn 36, Issue 5, 2005, Pages 309-313

  Bertini, E ^a   Donati, M A ^c   Broda, P ^b   Cassandrini, D ^b   Petrini, S ^a   Dionisi Vici, C ^a   Ballerini, L ^a   Boldrini, R ^a   D'Amico, A ^a   Pasquini, E ^c   Minetti, C ^b   Santorelli, F M ^a   Bruno, C ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Danon disease; Hypertrophic cardiomyopathy; LAMP 2

Indexed keywords

ESTERASE; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOGEN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; PROPAFENONE; VERAPAMIL;

ADOLESCENT; ANAMNESIS; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CELL VACUOLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DANON DISEASE; ELECTROMYOGRAPHY; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; IMAGING SYSTEM; IMMUNOHISTOCHEMISTRY; LABORATORY TEST; MALE; MUSCLE BIOPSY; PAROXYSMAL SUPRAVENTRICULAR TACHYCARDIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WOLFF PARKINSON WHITE SYNDROME; X CHROMOSOME LINKED DISORDER;

EID: 27144436215     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2005-872844     Document Type: Article

References (10)

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