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.
Department of Neurological, Neurosurgical and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100, Siena, Italy.
Elena
E
Cardaioli
Paola
P
Da Pozzo
Edoardo
E
Malfatti
Carla
C
Battisti
Gian Nicola
GN
Gallus
Carmen
C
Gaudiano
Marco
M
Macucci
Alessandro
A
Malandrini
Maria
M
Margollicci
Anna
A
Rubegni
Maria Teresa
MT
Dotti
Antonio
A
Federico
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