All individuals with variants in gene PEX19

7 entries on 1 page. Showing entries 1 - 7.
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00309875 patient PubMed: Mohamed 2010 - F yes Saudi Arabia - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309876 patient PubMed: Ebberink 2011 - - - - - - 0 - - PBD see paper; ... 1 1 Shandi Hiebler
00309877 PBDJ-01 PubMed: Matsuzono 1999 - - - Japan - - 0 - - PBD see paper; ... 1 1 Nancy Braverman
00309879 patient PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Johan den Dunnen
00334927 PME21 PubMed: Courage 2021, Journal: Courage 2021 family, 2 affected (2M) M yes Malta - - 0 - - PBD12A Sibling pair, both with a history of developmental delay presenting at 7 and 8 years of age with progressive ataxia, occasional myoclonus and TCS and dementia. Associated with limb spasticity. 1 2 Carolina Courage
00334928 PME22 PubMed: Courage 2021, Journal: Courage 2021 relative of PME21 M yes Malta - - 0 - - PBD12A see sib 1 1 Carolina Courage
00334930 PME60 PubMed: Courage 2021, Journal: Courage 2021 - F no Malta - - 0 - - PBD12A Onset age 8 ataxia, then TCS from age 12, on a background of normal developmental history prior to onset. Progressive severe ataxia. Hypertonia noted. Death age 35. (Affected brother not recruited) 1 1 Carolina Courage
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