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A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

✍ Scribed by Manuèle Miné; Michèle Brivet; Manuel Schiff; Hélène Ogier de Baulny; Nadia Chuzhanova; Cécile Marsac


Book ID
116987888
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
743 KB
Volume
89
Category
Article
ISSN
1096-7192

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Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from