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MERRF/MELAS overlap syndrome

MedGen UID:
463320
•Concept ID:
C3151970
•
Disease or Syndrome
Synonym: MERRF/MELAS OVERLAP SYNDROME
 
OMIM®: 590040; 590060; 590080; 590085

Recent clinical studies

Diagnosis

Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke-like episodes localized to the precentral gyrus.
Miyahara H, Matsumoto S, Mokuno K, Dei R, Akagi A, Mimuro M, Iwasaki Y, Yoshida M
Neuropathology 2019 Jun;39(3):212-217. Epub 2019 Apr 10 doi: 10.1111/neup.12551. PMID: 30972844Free PMC Article
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation.
Mongini T, Doriguzzi C, Chiadò-Piat L, Silvestri G, Servidei S, Palmucci L
Clin Neuropathol 2002 Mar-Apr;21(2):72-6. PMID: 12005255

Prognosis

MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.
Nakamura M, Yabe I, Sudo A, Hosoki K, Yaguchi H, Saitoh S, Sasaki H
J Med Genet 2010 Oct;47(10):659-64. Epub 2010 Jul 7 doi: 10.1136/jmg.2009.072058. PMID: 20610441

Clinical prediction guides

A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J
Biochem Biophys Res Commun 1995 Sep 5;214(1):86-93. doi: 10.1006/bbrc.1995.2260. PMID: 7669057
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene.
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C, DiDonato S
Eur J Hum Genet 1993;1(1):80-7. doi: 10.1159/000472390. PMID: 8069654

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