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2014 | 1 |
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PubMed (cited) for id: 619167
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A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26.
Hum Genet. 2015.
PMID: 26008905
Free PMC article.
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Häberli A, Gallati S, Schaller A.
Jackson CB, et al.
J Med Genet. 2014 Mar;51(3):170-5. doi: 10.1136/jmedgenet-2013-101932. Epub 2013 Dec 23.
J Med Genet. 2014.
PMID: 24367056
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