Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)

Neuromuscular Disorders

Volumn 15, Issue 4, 2005, Pages 293-298

  Lobrinus, J A ^a   Schorderet, D F ^b   Payot, M ^a   Jeanrenaud, X ^a   Bottani, A ^c   Superti Furga, A ^a   Schlaepfer, J ^a   Fromer, M ^a   Jeannet, P Y ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b Institut de Recherche en Ophtalmologie   (Switzerland)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Cardiomyopathy; Danon disease; Genetic; Immunohistochemistry; LAMP 2; Morphology; Myopathy

Indexed keywords

LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;

ADOLESCENT; ADULT; ARTICLE; CAUSE OF DEATH; CELL VACUOLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COUNSELING; DANON DISEASE; DEFIBRILLATOR; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HEART ARREST; HEART MUSCLE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; IMMUNOHISTOCHEMISTRY; MALE; MORPHOLOGY; MUSCLE BIOPSY; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKELETAL MUSCLE; SUDDEN DEATH; X CHROMOSOME LINKED DISORDER;

EID: 15944392098     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.12.007     Document Type: Article

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