Spondyloepimetaphyseal dysplasia with neurodegeneration associated withAIFM1mutation - a novel phenotype of the mitochondrial disease-Reference-Cited by-同舟云学术

Spondyloepimetaphyseal dysplasia with neurodegeneration associated withAIFM1mutation - a novel phenotype of the mitochondrial disease

Published:2016-06-02 Issue:1 Volume:91 Page:30-37
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Mierzewska H.¹,Rydzanicz M.²,Biegański T.³,Kosinska J.²,Mierzewska-Schmidt M.⁴,Ługowska A.⁵,Pollak A.⁶,Stawiński P.²⁶,Walczak A.²,Kędra A.²,Obersztyn E.⁷,Szczepanik E.¹,Płoski R.²

Affiliation:

1. Department of Child and Adolescent Neurology; Institute of Mother and Child; Warsaw Poland

2. Department of Medical Genetics; Warsaw Medical University; Warsaw Poland

3. Department of Diagnostic Imaging; Polish Mother's Memorial Hospital - Research Institute; Lodz Poland

4. Department of Pediatric Anesthesiology and Intensive Therapy; Medical University of Warsaw; Warsaw Poland

5. Department of Genetics; Institute of Psychiatry and Neurology; Warsaw Poland

6. Department of Genetics; Institute of Physiology and Pathology of Hearing; Warsaw Poland

7. Department of Medical Genetics; Institute of Mother and Child; Warsaw Poland

Funder

Narodowe Centrum Nauki

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12792/fullpdf

Reference18 articles.

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3. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia;Kimura-Ohba;Am J Med Genet A,2013

4. A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27;Neubauer;Neurology,2006

5. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?;Ploski;Circ Res,2014

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