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Titolo:
Infantile encephalopathy associated with the MELAS A3243G mutation
Autore:
Sue, CM; Bruno, C; Andreu, AL; Cargan, A; Mendell, JR; Tsao, CY; Luquette, M; Paolicchi, J; Shanske, S; DiMauro, S; De Vivo, DC;
Indirizzi:
Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY USA Columbia Univ New York NY USA Phys & Surg, Dept Neurol, New York, NY USA Columbia Univ, Coll Phys & Surg, Dept Pediat, New York, NY USA Columbia Univ New York NY USA Phys & Surg, Dept Pediat, New York, NY USA Hosp Gen Valle Hebron, Ctr Invest Bioquim & Biol Mol, Barcelona, Spain Hosp Gen Valle Hebron Barcelona Spain quim & Biol Mol, Barcelona, Spain Ohio State Univ, Dept Neurol, Columbus, OH 43210 USA Ohio State Univ Columbus OH USA 43210 Dept Neurol, Columbus, OH 43210 USA Columbus Childrens Hosp, Dept Pediat & Neurol, Columbus, OH USA Columbus Childrens Hosp Columbus OH USA ediat & Neurol, Columbus, OH USA Columbus Childrens Hosp, Dept Pathol, Columbus, OH USA Columbus Childrens Hosp Columbus OH USA p, Dept Pathol, Columbus, OH USA
Titolo Testata:
JOURNAL OF PEDIATRICS
fascicolo: 6, volume: 134, anno: 1999,
pagine: 696 - 700
SICI:
0022-3476(199906)134:6<696:IEAWTM>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
MITOCHONDRIAL-DNA; LACTIC-ACIDOSIS; EPISODES MELAS; DIABETES-MELLITUS; HEARING-LOSS; STROKE; ENCEPHALOMYOPATHY; MYOPATHY; MUTANT; MTDNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: De Vivo, DC Neurol Inst, 710 W 168Th St, New York, NY 10032 USA Neurol Inst 710 W 168Th St New York NY USA 10032 NY 10032 USA
Citazione:
C.M. Sue et al., "Infantile encephalopathy associated with the MELAS A3243G mutation", J PEDIAT, 134(6), 1999, pp. 696-700

Abstract

MELAS syndrome is typically characterized by normal early development and childhood-onset recurrent neurologic deficits (stroke-like episodes), seizures, short stature, lactic acidosis, and ragged red fibers on muscle biopsyspecimens. It is usually, but not in variably, associated with the A3243G point mutation in the mitochondrial DNA tRNA(Leu)(UUR) gene. We report 3 unrelated children with the A3243G mutation who presented with severe psychomotor delay in early infancy. One patient's clinical picture was more consistent with Leigh syndrome, with apneic episodes, ataxia, and bilateral striatal lesions on brain magnetic resonance imaging (MRI). The second patient had generalized seizures refractory to treatment and bilateral occipital lesions on brain RW. The third child had atypical retinal pigmentary changes, seizures, areflexia, and cerebral atrophy on brain MRI. All patients had several atypical features in addition to early onset: absence of an acute or focal neurologic deficit, variable serum and cerebrospinal fluid lactate levels, lack of ragged red fibers in muscle biopsy specimens. The proportion of mutant mtDNA in available tissues was relatively low (range, 5% to 51% in muscle; 4% to 39% in blood). These observations further extend the phenotypic expression of the A3243G "MELAS" mutation. Our findings confirm previous observations that there is poor correlation between abundance of mutant mtDNA in peripheral tissues and neurologic phenotype. This suggests that other factors contribute to the phenotypic expression of this mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 10/07/20 alle ore 15:55:56