Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
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...
| 主要な著者: | , , , , , , |
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| フォーマット: | Journal article |
| 言語: | English |
| 出版事項: |
2010
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