Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation: A morphological, genetic and spectroscopic study [4]

Journal of Neurology

Volumn 250, Issue 12, 2003, Pages 1498-1500

  Sciacco, Monica ^a   Prelle, Alessandro ^a   D'Adda, Elisabetta ^a   Lamperti, Costanza ^a   Bordoni, Andreina ^a   Rango, Mario ^a   Crimi, Marco ^a   Comi, Giacomo P ^a   Bresolin, Nereo ^b   Moggio, Maurizio ^a  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; VALPROIC ACID;

ADULT; ANAMNESIS; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; HUMAN; LABORATORY TEST; LEIGH DISEASE; LETTER; MEASLES VIRUS; NARP SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; VIRUS ENCEPHALITIS;

ADULT; APOPTOSIS; ATAXIA; BLOTTING, SOUTHERN; BRAIN; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; IN SITU NICK-END LABELING; LEIGH DISEASE; MAGNETIC RESONANCE SPECTROSCOPY; MICROSCOPY, ELECTRON; MITOCHONDRIAL DISEASES; MUSCLE WEAKNESS; MUSCLE, SKELETAL; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RETINITIS PIGMENTOSA;

EID: 9144224757     PISSN: 03405354     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00415-003-0246-6     Document Type: Letter

References (9)

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