Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

Neuromuscular Disorders

Volumn 19, Issue 6, 2009, Pages 418-422

  Piñol Ripoll, Gerard ^a   Shatunov, Alexey ^b   Cabello, Ana ^c   Larrodé, Pilar ^a   de la Puerta, Iris ^a   Pelegrín, Juana ^a   Ramos, Feliciano J ^a   Olivé, Montse ^d   Goldfarb, Lev G ^b  

^a HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

Author keywords

Autosomal recessive inheritance; Desmin mutation; Heart failure; Restrictive cardiomyopathy; Skeletal myopathy

Indexed keywords

ALPHA CRYSTALLIN; ARGININE; DESMIN; GLUTAMIC ACID;

ADULT; AMINO ACID SUBSTITUTION; ANGIOCARDIOGRAPHY; ARM MUSCLE; ARTICLE; ATRIOVENTRICULAR BLOCK; AUTOSOMAL DOMINANT INHERITANCE; CARDIOMYOPATHY; CASE REPORT; CONSANGUINEOUS MARRIAGE; DEFIBRILLATION; DISEASE ASSOCIATION; DISEASE SEVERITY; FACE MUSCLE; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HEART VENTRICLE TACHYCARDIA; HOMOZYGOSITY; HUMAN; LEG MUSCLE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PREDICTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RECURRENT DISEASE; RESTRICTIVE CARDIOMYOPATHY; SARCOLEMMA; SHOULDER GIRDLE; SKELETAL MUSCLE; SYNCOPE; TRANSTHORACIC ECHOCARDIOGRAPHY; WOLFF PARKINSON WHITE SYNDROME;

AGE OF ONSET; CARDIOMYOPATHIES; DEFIBRILLATORS, IMPLANTABLE; DESMIN; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; HEART; HOMOZYGOTE; HUMANS; INFANT; MUSCLES; SEQUENCE DELETION;

EID: 67349253888     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.04.004     Document Type: Article

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