All individuals with variants in gene COL6A3

789 entries on 8 pages. Showing entries 1 - 100.
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00054694 Pat23 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Australia - >23y - - - MDC infantile hypotonia, congenital femur fracture, walked age 2 years, progression with wheelchair dependency by 12y, distal laxity, hyperkeratosis pilaris, restrictive lung disease; CPK mild elevation (282); histology dystrophic 1 1 Shireen Lamandé
00054698 Pat63 PubMed: O'Grady 2016 - M - Australia - >14y - - - MDC congenital hip dislocation, proximal weakness, distal laxity, contractures; CPK mild elevation (475); IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00054702 Pat85 PubMed: O'Grady 2016 - M - Australia - >10y - - - MDC infantile hypotonia, arthrogryposis, congenital hip dislocation, gross motor delay, walked with support at 3 years, mild facial weakness, ptosis, contractures, mild scoliosis; CPK normal; IHC COLVI; histology dystrophic 1 1 Shireen Lamandé
00080859 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - UCMD Ullrich congenital muscular dystrophy 1 (OMIM:254090) 1 1 Daniel Trujillano
00102743 MYO-SEQ Pat1 MYO-SEQ project, UK - M no Germany - - - - - BTHLM1A - 2 1 Alison Blain
00103084 MYO-SEQ Pat2 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108716 MYO-SEQ Pat17 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108718 MYO-SEQ Pat19 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108720 MYO-SEQ Pat20 MYO-SEQ project, UK - F ? United Kingdom (Great Britain) - - - - - BTHLM1A - 2 1 Alison Blain
00108722 MYO-SEQ Pat22 MYO-SEQ project, UK - - no United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108725 MYO-SEQ Pat25 MYO-SEQ project, UK - F yes United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108734 MYO-SEQ Pat33 MYO-SEQ project, UK - M no United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108735 MYO-SEQ Pat34 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108736 MYO-SEQ Pat35 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - - - - UCMD - 1 1 Alison Blain
00108738 MYO-SEQ Pat4 MYO-SEQ project, UK - F no United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108742 MYO-SEQ Pat8 MYO-SEQ project, UK - M yes United Kingdom (Great Britain) - - - - - BTHLM1A - 1 1 Alison Blain
00108755 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108757 P2 PubMed: Giusti 2005 - - - Turkey - - - - - UCMD - 4 1 Anne Lampe
00108768 Pat28, Pat29 PubMed: Lampe 2005 first degree relatives, no confirmatory data - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108772 P4 PubMed: Giusti 2005 - - - Italy - - - - - UCMD mild 5 1 Anne Lampe
00108773 P1 PubMed: Giusti 2005 - - yes Turkey - - - - - UCMD - 4 1 Anne Lampe
00108774 Pat43 PubMed: Lampe 2005 - - - - - - - - - BTHLM1A severe 1 1 Johan den Dunnen
00108775 P5 PubMed: Giusti 2005 - - - Belgium - - - - - UCMD mild 5 1 Anne Lampe
00108799 ? PubMed: Lampe 2005 - - - - - - - - - UCMD - 2 1 Johan den Dunnen
00108805 - PubMed: Demir 2002, OMIM:var0003 - - - Italy - - - - - UCMD mild 2 1 Johan den Dunnen
00108807 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108808 ? PubMed: Lampe 2005 - - - - - - - - - UCMD - 1 1 Johan den Dunnen
00108809 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108810 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108811 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108812 - PubMed: Pan 1998, OMIM:var0001 large 3 generation family - - United States - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108813 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A severe 1 1 Johan den Dunnen
00108814 ? PubMed: Lampe 2005 - - - - - - - - - UCMD - 1 1 Johan den Dunnen
00108815 - PubMed: Pepe 1999 2 generation family - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108816 - PubMed: Baker 2005, OMIM:var0004 - - - - - - - - - UCMD - 1 1 Johan den Dunnen
00108817 ? PubMed: Lampe 2005 - - - - - - - - - UCMD - 1 3 Johan den Dunnen
00108818 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A severe 1 1 Johan den Dunnen
00108819 ? PubMed: Lampe 2005 - - - - - - - - - UCMD - 1 1 Johan den Dunnen
00108820 - PubMed: Demir 2002, OMIM:var0002 brother and 2 sisters - - Morocco - - - - - UCMD - 2 3 Johan den Dunnen
00108821 - PubMed: Demir 2002 - - - - - - - - - UCMD - 2 1 Johan den Dunnen
00108822 ? PubMed: Lampe 2005 - - - - - - - - - BTHLM1A - 1 1 Johan den Dunnen
00108823 ? PubMed: Baker 2007 - M - Australia - - - - - BTHLM1A - 18 1 Johan den Dunnen
00108824 ? PubMed: Baker 2007 - M - United States - - - - - BTHLM1A CPK normal 23 1 Johan den Dunnen
00108825 ? PubMed: Baker 2007 - M - United States - - - - - BTHLM1A CPK increased 27 1 Johan den Dunnen
00108826 ? PubMed: Baker 2007 - F - Australia - - - - - BTHLM1A CPK increased 14 1 Johan den Dunnen
00108827 ? PubMed: Baker 2007 - M - New Zealand - - - - - BTHLM1A CPK normal 20 1 Johan den Dunnen
00108828 ? PubMed: Baker 2007 - M - Australia - - - - - BTHLM1A - 16 1 Johan den Dunnen
00108829 ? PubMed: Baker 2007 - M - United Kingdom (Great Britain) - - - - - BTHLM1A CPK normal 17 1 Johan den Dunnen
00108830 ? PubMed: Baker 2007 - M - Australia - - - - - BTHLM1A - 18 1 Johan den Dunnen
00108843 ? PubMed: Baker 2007 - M - Australia - - - - - UCMD CPK normal 1 1 Johan den Dunnen
00108852 ? - - F - Saudi Arabia Arab - - - - UCMD - 1 1 Tom Winder
00108863 ? - - - - United States - - - - - UCMD proximall weakness; contractures; CPK ~400 1 1 Tom Winder
00108864 ? - - - - (United States) - - - - - BTHLM1A - 1 1 Tom Winder
00108869 ? - - - - Saudi Arabia Arab - - - - UCMD - 2 1 Tom Winder
00108879 ? - - F - United States - - - - - UCMD - 2 1 Tom Winder
00108880 ? - - F - United States - - - - - MYOP - 2 1 Tom Winder
00108882 ? - - - - Canada - - - - - MYOP congenital myopathy 1 1 Tom Winder
00108883 ? - - - - United States - - - - - UCMD - 1 1 Tom Winder
00108890 ? - - M - United States - - - - - UCMD - 1 1 Tom Winder
00108894 ? - - M - United States - - - - - MDC - 1 1 Tom Winder
00108904 ? - - F - Saudi Arabia Arab - - - - ? collagenopathy, type VI; rigid spine 2 1 Tom Winder
00108905 ? - - M - Saudi Arabia Arab - - - - UCMD - 1 1 Tom Winder
00109081 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109082 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109083 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109084 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109085 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109086 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109087 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109088 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109089 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109090 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109091 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109092 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109093 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109094 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109095 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109096 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109097 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109098 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109099 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109100 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109101 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109102 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109103 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109104 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109105 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109106 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109107 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109108 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109109 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109110 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109111 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109112 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109113 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109114 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109115 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109116 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109117 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00109118 ? - - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
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