Abstract
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Most MNGIE patients have signs of mitochondrial dysfunction in skeletal muscle at morphological and enzyme level, as well as mitochondrial DNA depletion, multiple deletions and point mutations. A case without mitochondrial skeletal muscle involvement and with a TYMP splice-acceptor site mutation (c. 215-1 G>C) has been reported. Here, we describe an Italian patient with the same mutation and without mitochondrial skeletal muscle involvement, suggesting a possible genotype-phenotype correlation.
| Original language | English |
|---|---|
| Pages (from-to) | 491-494 |
| Number of pages | 4 |
| Journal | Neurological Sciences |
| Volume | 31 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Aug 2010 |
Fingerprint
Keywords
- MNGIE syndrome
- MtDNA
- Muscle biopsy
- Thymidine phosphorylase gene
ASJC Scopus subject areas
- Clinical Neurology
- Psychiatry and Mental health
- Dermatology
- Medicine(all)
Cite this
A second MNGIE patient without typical mitochondrial skeletal muscle involvement. / Cardaioli, Elena; Da Pozzo, Paola; Malfatti, Edoardo; Battisti, Carla; Gallus, Gian Nicola; Gaudiano, Carmen; MacUcci, Marco; Malandrini, Alessandro; Margollicci, Maria; Rubegni, Anna; Dotti, Maria Teresa; Federico, Antonio.
In: Neurological Sciences, Vol. 31, No. 4, 08.2010, p. 491-494.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A second MNGIE patient without typical mitochondrial skeletal muscle involvement
AU - Cardaioli, Elena
AU - Da Pozzo, Paola
AU - Malfatti, Edoardo
AU - Battisti, Carla
AU - Gallus, Gian Nicola
AU - Gaudiano, Carmen
AU - MacUcci, Marco
AU - Malandrini, Alessandro
AU - Margollicci, Maria
AU - Rubegni, Anna
AU - Dotti, Maria Teresa
AU - Federico, Antonio
PY - 2010/8
Y1 - 2010/8
N2 - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Most MNGIE patients have signs of mitochondrial dysfunction in skeletal muscle at morphological and enzyme level, as well as mitochondrial DNA depletion, multiple deletions and point mutations. A case without mitochondrial skeletal muscle involvement and with a TYMP splice-acceptor site mutation (c. 215-1 G>C) has been reported. Here, we describe an Italian patient with the same mutation and without mitochondrial skeletal muscle involvement, suggesting a possible genotype-phenotype correlation.
AB - Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Most MNGIE patients have signs of mitochondrial dysfunction in skeletal muscle at morphological and enzyme level, as well as mitochondrial DNA depletion, multiple deletions and point mutations. A case without mitochondrial skeletal muscle involvement and with a TYMP splice-acceptor site mutation (c. 215-1 G>C) has been reported. Here, we describe an Italian patient with the same mutation and without mitochondrial skeletal muscle involvement, suggesting a possible genotype-phenotype correlation.
KW - MNGIE syndrome
KW - MtDNA
KW - Muscle biopsy
KW - Thymidine phosphorylase gene
UR - http://www.scopus.com/inward/record.url?scp=77958146602&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77958146602&partnerID=8YFLogxK
U2 - 10.1007/s10072-010-0225-5
DO - 10.1007/s10072-010-0225-5
M3 - Article
VL - 31
SP - 491
EP - 494
JO - Neurological Sciences
JF - Neurological Sciences
SN - 1590-1874
IS - 4
ER -