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Product

De Novo case of autosomal dominant mitochondrial membrane protein- associated neurodegeneration

Center:

TX-LoneStar, LEND

Fiscal Year:

2021

Contact Information:

Mary Kay Koenig
[email protected]
713-500-7164

Product Description:

We present a case of a de novo pathogenic variant in C19orf12 identified in a female with clinical features consistent with a diagnosis of MPAN, adding further evidence that the disease can be inherited in an autosomal dominant fashion

Keyword(s):

brain- iron accumulation, clinical genetics, movement disorders, neurodegeneration

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Consumers/Families, Professionals, Policymakers, Students

Alternative Format:

To Obtain Copies (URL or Email):

https://onlinelibrary.wiley.com/doi/epdf/10.1002/mgg3.1706

COVID-19 Related Data:

N/A

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