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Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T

โœ Scribed by Yoko Sunami; Keizo Sugaya; Norio Chihara; Yu-ichi Goto; Shiro Matsubara


Book ID
106269304
Publisher
Springer Milan
Year
2011
Tongue
English
Weight
319 KB
Volume
32
Category
Article
ISSN
1590-1874

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## Abstract Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel muta