Avtor/Urednik		Lovrečić, L; Pelet, A; Peterlin, B
Naslov		Heterogeneity of the triple A syndrome and assessment of a case
Tip		članek
Vir		Genet Couns
Vol. in št.		Letnik 17, št. 2
Leto izdaje		2006
Obseg		str. 41-5
Jezik		eng
Abstrakt		Allgrove syndrome (triple A syndrome) is a rare autosomal recessive disorder characterized by achalasia, alacrima, adrenal insufficiency, and--occasionally--autonomic instability. Disease causing mutations have been found in the AAAS gene on 12q13, but no strong phenotype-genotype correlation could be found. We present a 28 year-old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions/deficits, including distal muscular atrophy, progressive muscle weakness and wasting of both legs, sensibility dysfunction, hyperreflexia and autonomic dysfunction presented with excessive sweating. DNA sequencing of the AAAS gene revealed compound heterozygosity for previously reported mutations. A similar genotype was previously reported, but with a remarkably different phenotype.
Deskriptorji		ESOPHAGEAL ACHALASIA TEARS SALIVATION ADRENAL GLAND HYPOFUNCTION HETEROZYGOTE ADULT GENOTYPE