TY - JOUR
T1 - Mitochondrial neurogastrointestinal encephalomyopathy
T2 - Novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers
AU - Libernini, Laura
AU - Lupis, Chiara
AU - Mastrangelo, Mario
AU - Carrozzo, Rosalba
AU - Santorelli, Filippo Maria
AU - Inghilleri, Maurizio
AU - Leuzzi, Vincenzo
PY - 2012
Y1 - 2012
N2 - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE, MIM 603041) is an autosomal recessive multisystem disorder occurring due to mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). Clinical features of MNGIE include gastrointestinal dysmotility, cachexia, ptosis or ophthalmoparesis, peripheral neuropathy, diffuse leukoencephalopathy, and signs of mitochondrial dysfunction in tissues. We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215-13- 215delinsGCGTGA; c.1159 + 2T > A) were associated with different clinical presentations and outcomes.
AB - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE, MIM 603041) is an autosomal recessive multisystem disorder occurring due to mutations in a nuclear gene coding for the enzyme thymidine phosphorylase (TYMP). Clinical features of MNGIE include gastrointestinal dysmotility, cachexia, ptosis or ophthalmoparesis, peripheral neuropathy, diffuse leukoencephalopathy, and signs of mitochondrial dysfunction in tissues. We report the clinical and molecular findings in two brothers in whom novel TYMP gene mutations (c.215-13- 215delinsGCGTGA; c.1159 + 2T > A) were associated with different clinical presentations and outcomes.
KW - children
KW - mitochondrial diseases
KW - mitochondrial neurogastrointestinal encephalomyopathy
KW - thymidine phosphorylase
UR - http://www.scopus.com/inward/record.url?scp=84865249301&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84865249301&partnerID=8YFLogxK
U2 - 10.1055/s-0032-1315431
DO - 10.1055/s-0032-1315431
M3 - Article
C2 - 22618301
AN - SCOPUS:84865249301
VL - 43
SP - 201
EP - 208
JO - Neuropediatrics
JF - Neuropediatrics
SN - 0174-304X
IS - 4
ER -