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Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

Abstract:

Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, PCH2, PCH4, and PCH6) is known. PCH6 is associated with cerebral atrophy and multiple but variable respiratory chain defects in muscle and has been reported in one consanguineous Sephardic Jewish family. It is caused by mutations in the RARS2 gene which encodes mitochondrial arginine-transfer RNA synthetase. Here we describe a female patient born to nonconsan...

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Publication status:
Published

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Publisher copy:
10.1002/ajmg.a.33531

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Journal:
American journal of medical genetics. Part A
Volume:
152A
Issue:
8
Pages:
2079-2084
Publication date:
2010-08-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:00fb0d51-4e9a-4d68-88a2-28e0180231d0
Source identifiers:
311051
Local pid:
pubs:311051

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