A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
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.
Cardaioli
Elena
E
Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
Da Pozzo
Paola
P
Malfatti
Edoardo
E
Battisti
Carla
C
Gallus
Gian Nicola
GN
Gaudiano
Carmen
C
Macucci
Marco
M
Malandrini
Alessandro
A
Margollicci
Maria
M
Rubegni
Anna
A
Dotti
Maria Teresa
MT
Federico
Antonio
A
D000328:Adult; D015415:Biomarkers; D001706:Biopsy; D003241:Consanguinity; D004272:DNA, Mitochondrial / Q000235:genetics; D004568:Electrodiagnosis; D004576:Electromyography; D017809:Fatal Outcome; D007839:Functional Laterality / Q000502:physiology; D005767:Gastrointestinal Diseases / Q000150:complications / Q000473:pathology*; D006312:Hearing Loss, Bilateral / Q000150:complications; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000473:pathology*; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000473:pathology*; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology*; D014839:Vomiting / Q000209:etiology
D015415:Biomarkers; D004272:DNA, Mitochondrial