Triple A syndrome: A novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency

Journal of the Neurological Sciences

Volumn 290, Issue 1-2, 2010, Pages 150-152

  Luigetti, M ^a   Pizzuti, A ^b,c   Bartoletti, S ^a   Houlden, H ^d   Pirro, C ^b   Bottillo, I ^c   Madia, F ^a   Conte, A ^a   Tonali, P A ^a,e   Sabatelli, M ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^e IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

Author keywords

Allgrove syndrome; Bulbar involvement; Genetic mutation

Indexed keywords

NERVE PROTEIN; PROTEIN AAAS; UNCLASSIFIED DRUG;

ADRENAL INSUFFICIENCY; ADULT; ALLGROVE SYNDROME; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; ITALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; THORAX RADIOGRAPHY;

ADRENAL INSUFFICIENCY; ADULT; AUTONOMIC NERVOUS SYSTEM DISEASES; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL ACHALASIA; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; ITALY; MUTATION; NERVE TISSUE PROTEINS; NUCLEAR PORE COMPLEX PROTEINS; PERIPHERAL NERVOUS SYSTEM DISEASES; RNA SPLICE SITES; SYNDROME;

EID: 74849111707     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.12.005     Document Type: Article

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