WordNet

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R.SourceFirst Division of Neurology, Department of Neurological Sciences, Second University of Naples, School of Medicine, Poclinico Universitario Federico II, Italy. marina.melone@unina2.it
Archives of neurology.Arch Neurol.2004 Feb;61(2):269-72.
BACKGROUND: A 26-year-old man presented at onset with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and later with a phenotype for MELAS and myoclonic epilepsy and ragged red fiber disease (MELAS/MERRF).OBJECTIVE: To identify the possible defects i
PMID 14967777

[A case of mitochondrial cytopathy (MERFF) without ragged red fibers at the onset].

Gignoux L, Maisonobe T, Laforet P, Lombès A, Lyon-Caen O, Fontaine B.SourceFédération de Neurologie des Prs. Agid et Lyon-Caen, Paris, Cedex, France.
Revue neurologique.Rev Neurol (Paris).2001 Apr;157(4):427-9.
We report a case of a mitochondrial cytopathy (MERRF) with a late diagnosis because of the absence of Ragged-Red Fibers (RRF) in the first muscular biopsy performed in childhood. Eight years after the onset of the disease the familial history and the clinical manifestations were very suggestive of a
PMID 11398016