Mitochondrial Cardioencephalomyopathy Due to a Novel SCO2 Mutation in a Brazilian Patient
نویسندگان
چکیده
منابع مشابه
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.
OBJECTIVES To review all patients with SCO2 mutations and to describe a Brazilian patient with cardioencephalomyopathy carrying compound heterozygous mutations in SCO2, one being the known pathogenic p.E140K mutation and the other a novel 12-base pair (bp) deletion at nucleotides 1519 through 1530 (c.1519_1530del). DESIGN Case report and literature review. SETTING University hospital. PAT...
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BACKGROUND Mutations in the SCO2 gene have been associated with fatal cardioencephalomyopathy. OBJECTIVE To report a novel SCO2 mutation with prominent spinal cord involvement mimicking spinal muscular atrophy (Werdnig-Hoffmann disease). PATIENT AND METHODS An infant girl presented at birth with generalized weakness, hypotonia, and lactic acidosis. At 1 month of age she developed hypertroph...
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We read with interest the article by Sondheimer et al. about an infant male with mitochondrial cardio-encephalopathy and CoQ10 deficiency due to a COQ4 mutation [1]. We have the following comments and concerns. The newborn obviously had developed mitochondrial multiorgan disorder syndrome (MIMODS), manifesting in the brain (hypotonia, seizures, microcephaly, cortical T1-hyperintensities, cerebr...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.595