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Product

Early Progressive Encephalopathy in Boys and MECP2 Mutations

Center:

MD-Kennedy Krieger Institute, UCEDD/LEND

Fiscal Year:

2007

Contact Information:

Product Description:

MECP2 mutations mainly occur in femailes with Rett syndrome. Mutations have been described in 11 boys with progresive excephalopathy: seven of nine with affected sisters and two do novo. The authors report four de novo occurences: three pathogenic and one potentially pathogenic. Common features include failure to thrive, respiratory insufficiency, microcephaly, and abnoral motor control. MECP2 mutations should be assessed in boys with progressive encephalopathy and one or more of respiratory insufficiency, abnormal movements or tone, and intractable seizures.

Keyword(s):

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Consumers/Families, Professionals, Students

Alternative Format:

To Obtain Copies (URL or Email):

COVID-19 Related Data:

N/A

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