Danon disease: Intrafamilial phenotypic variability related to a novel LAMP-2 mutation

Journal of Inherited Metabolic Disease

Volumn 34, Issue 2, 2011, Pages 515-522

  Cottinet, Sarah Louise ^a   Bergemer Fouquet, Anne Marie ^a   Toutain, Annick ^a   Sabourdy, Frédérique ^b,c   Maakaroun Vermesse, Zoha ^a   Levade, Thierry ^b,c   Chantepie, Alain ^a   Labarthe, François ^d,e  

^a UNIVERSITÉ DE TOURS   (France)

^b TOULOUSE UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

^d CHRU de Tours   (France)

^e Centre de Pediatrie Clocheville   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; GLYCINE; ISOLEUCINE; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; SERINE; VALINE;

ADULT; ARTICLE; CASE REPORT; CELL VACUOLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; CYTOPLASM; DANON DISEASE; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY STUDY; FIBROBLAST; GENE; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART PALPITATION; HEART VENTRICLE EXTRASYSTOLE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; LAMP 2 GENE; MENTAL DEFICIENCY; MUSCLE BIOPSY; MUSCLE CELL; MUSCLE WEAKNESS; MYALGIA; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGICAL ANATOMY; PHENOTYPE; PROTEIN EXPRESSION; SUDDEN DEATH; SUPRAVENTRICULAR TACHYCARDIA;

ADOLESCENT; ADULT; BIOPSY; CHILD; FEMALE; GENETIC VARIATION; GLYCOGEN STORAGE DISEASE TYPE IIB; HUMANS; IMMUNOHISTOCHEMISTRY; LYSOSOME-ASSOCIATED MEMBRANE GLYCOPROTEINS; LYSOSOMES; MALE; MENTAL RETARDATION; MUSCLE, SKELETAL; MUTATION; PHENOTYPE;

EID: 79955684796     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9251-y     Document Type: Article

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