All individuals with variants in gene VMA21

24 entries on 1 page. Showing entries 1 - 24.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00146446 19379691-Fam3 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 1 affected M - France - - - - - MEAX - 1 1 Johan den Dunnen
00146447 19379691-Fam1 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 3 affecteds M - United States - - - - - MEAX - 1 3 Johan den Dunnen
00146448 19379691-Fam2 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 1 affected M - Italy - - - - - MEAX - 1 1 Johan den Dunnen
00146449 19379691-Fam4 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - MEAX - 1 2 Johan den Dunnen
00146450 19379691-Fam5 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - MEAX - 1 2 Johan den Dunnen
00146451 19379691-Fam6 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - MEAX - 1 2 Johan den Dunnen
00146452 19379691-Fam7 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 4 affecteds M - France - - - - - MEAX - 1 4 Johan den Dunnen
00146453 19379691-Fam8 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - France - - - - - MEAX - 1 2 Johan den Dunnen
00146454 19379691-Fam9 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 5 affecteds M - France - - - - - MEAX - 1 5 Johan den Dunnen
00146455 19379691-Fam10 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 5 affecteds M - Finland - - - - - MEAX - 1 5 Johan den Dunnen
00146456 19379691-Fam11 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 2 affecteds M - Finland - - - - - MEAX - 1 2 Johan den Dunnen
00146457 19379691-Fam12 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 7 affecteds M - United States - - - - - MEAX - 1 7 Johan den Dunnen
00146458 19379691-Fam13 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 10 affecteds M - United States - - - - - MEAX - 1 10 Johan den Dunnen
00146459 19379691-Fam14 PubMed: Ramachandran 2013 (retracted PubMed: Ramachandran 2009) family, 3 affecteds M - United States - - - - - MEAX - 1 3 Johan den Dunnen
00146460 23850239-FamPatIII1 PubMed: Kurashige 2013 4-generation family, 3 affecteds (3M), unaffected carrier females M no Japan - - - - - MEAX see paper; ..., learned to walk normally, 6y-unable to keep pace with companions running; muscle weakness progressed slowly, 52y-ambulatory without assistance, able to work (medical laboratory technician; 52y-cardiac and respiratory functions normal; raised CPK (450 IU/l;) 1 3 Johan den Dunnen
00146461 24488655-FamPat1 PubMed: Crockett 2014 2-generation family, 2 affected brothers M - United States - - - - - MEAX see paper; ... 1 1 Johan den Dunnen
00146462 16217076-FamPat PubMed: Yan 2005 5-generation family, 7 affecteds (7M) M no United States China - - - - MYOP congenital autophagic vacuolar myopathy; see paper; ..., 5/7 died soon after birth due to inability to breathe and suckle, see paper; ..., 5/7 died soon after birth due to inability to breathe and suckle 1 1 Johan den Dunnen
00146463 25683699-Pat1 PubMed: Ruggieri 2015 2-generation family, 1 affected, unaffected carrier mother M - Italy - - - - - MEAX see paper; ..., 1 1 Johan den Dunnen
00146464 25683699-Pat2 PubMed: Ruggieri 2015 2-generation family, 1 affected M - Australia European - - - - MEAX see paper; ..., 1 1 Johan den Dunnen
00294961 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00314519 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00431415 III-4 - - M - Spain - 17y - - - MEAX - 1 1 Patricia Blanco-Arias
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