All individuals with variants in gene DNAJB6

112 entries on 2 pages. Showing entries 1 - 100.
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00094021 - - - F no Taiwan Han Chinese >51y - - - MD - 1 1 Yi-Chung Lee
00174771 Pat275B PubMed: Fichna 2018 - M - Poland - - - - - LGMD onset overt symptoms adulthood; CPK raised 5x; limb-girdle weakness with subacute onset, transient improvement after corticosteroid treatment, afterwards slowly progressive course; distal weakness present; generalized muscle atrophy; waddling gait 1 1 Johan den Dunnen
00205425 - PubMed: Sandell 2010, PubMed: Hackman 2011 2-generation family, affected father/son - - Finland - - - - - LGMD1 muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 3x 1 1 Johan den Dunnen
00205426 - PubMed: Sandell 2010, PubMed: Hackman 2011 2-generation family, affected mother/son - - Finland - - - - - LGMD1 muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 8x 1 2 Johan den Dunnen
00205427 - PubMed: Sandell 2010, PubMed: Hackman 2011 2-generation family, affected mother/son - - Finland - - - - - LGMD1 muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; no elevated serum creatine phosphokinase (-HP:0003236) 1 1 Johan den Dunnen
00205428 - PubMed: Sandell 2010, PubMed: Hackman 2011 3-generation family, 4 affecteds - - Finland - - - - - LGMD1 muscle weakness proximal upper limbs mild/moderate, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 2-3x 1 3 Johan den Dunnen
00205429 - PubMed: Sandell 2010, PubMed: Hackman 2011 4-generation family, 12 affecteds - - Finland - - - - - LGMD1 muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 3x 1 9 Johan den Dunnen
00205430 - - - M - United States - - - - - LGMD elevated serum creatine phosphokinase (HP:0003236) 2,000 1 1 Tom Winder
00205431 - PubMed: Speer 1995, PubMed: Speer 1999 6-generation family, 19 affecteds, 1 unaffected young carrier - - United States - - - - - LGMD1 muscle weakness proximal upper limbs no/moderate, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 10x 1 11 Johan den Dunnen
00205432 - PubMed: Speer 1995, PubMed: Speer 1999 7-generation family, 33 affecteds, 1 unaffected young carrier - - United States - - - - - LGMD1 muscle weakness proximal upper limbs mild/severe, muscle weakness proximal lower limbs moderate/severe, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 3.5x 1 20 Johan den Dunnen
00205433 - - - F - United States - - - - - LGMD1 limb girdle weakness; no elevated serum creatine phosphokinase (-HP:0003236) 1 1 Tom Winder
00205434 - PubMed: Sarparanta 2012 4-generation family, 8 affecteds - - Italy - - - - - LGMD1 muscle weakness proximal upper limbs mild, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 2x 1 8 Johan den Dunnen
00205435 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatII2 F - United States white >52y - - - LGMD1 proximal predominant weakness arms/legs, waddling gait; 56y-motorized wheelchair; elevated serum creatine phosphokinase (HP:0003236) 1118; still walking >52y 1 1 Johan den Dunnen
00205436 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatII3 M - United States white >56y - - - LGMD1 proximal predominant weakness arms/legs, GowerÂ’s sign, waddling gait; 56y-motorized wheelchair; short duration small amplitude polyphasic MUPs quadriceps/deltoid muscles; elevated serum creatine phosphokinase (HP:0003236) 632; still walking >56y 1 1 Johan den Dunnen
00205437 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatII7 F - United States white >37y - - - LGMD1 proximal predominant weakness legs, mildly waddling gait; elevated serum creatine phosphokinase (HP:0003236) 543; still walking >37y 1 1 Johan den Dunnen
00205438 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatIII1 M - United States white >41y - - - LGMD1 mild proximal predominant weakness lower extremities; EMG fibs, PSW, increased insertional activity, with early recruitment small-amplitude narrow-duration MUPs in iliopsoas/quadriceps muscles; elevated serum creatine phosphokinase (HP:0003236) 742; still walking >41y 1 1 Johan den Dunnen
00205439 - PubMed: Harms 2012 Fam1; 3-generation family, 7 affecteds, PatIII2 F - United States white >35y - - - LGMD1 proximal leg weakness with waddling gait, GowerÂ’s maneuver; elevated serum creatine phosphokinase (HP:0003236) 233; still walking >35y 1 1 Johan den Dunnen
00205440 - PubMed: Sarparanta 2012 3-generation family, 4 affecteds - - Italy - - - - - LGMD1 muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 8x 1 4 Johan den Dunnen
00205441 - PubMed: Harms 2012 Fam2; 4-generation family, 9 affecteds, PatIII1 F - United States African American >66y - - - MYOP distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness; 62y-motorized wheelchair; still walking >66y 1 1 Johan den Dunnen
00205442 - PubMed: Harms 2012 Fam2; 4-generation family, 9 affecteds, PatIII5 M - United States African American >45y - - - MYOP distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness ; NCS small CMAPs, normal SNAPs; EMG fibs, PSW with narrow, short-amplitude MUP and early recruitment; elevated serum creatine phosphokinase (HP:0003236) 278; 45y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205443 - PubMed: Harms 2012 Fam2; 4-generation family, 9 affecteds, PatIII6 M - United States African American >56y - - - MYOP diffuse lower extremity weakness, severe distal/moderate proximal upper extremity weakness; NCS small CMAPs, normal SNAPs; EMG fibs and PSW with narrow, short-amplitude MUP and early recruitment; elevated serum creatine phosphokinase (HP:0003236) 339; 53y-lost ability to walk (HP:0006957) 1 1 Johan den Dunnen
00205444 - - - - - - - - - - - LGMD severe, early onset 1 1 Seok-Yong Choi
00205445 - - - - - - - - - - - LGMD severe, early onset 1 1 Seok-Yong Choi
00205446 - - - F yes (Korea, South (Republic)) - - - - - ? - 1 1 Anni Evilä
00219549 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219578 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219582 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219678 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219684 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219689 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219708 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219711 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219727 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219731 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219745 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - CRS, LGMD - 1 1 Madhuri Hegde
00219802 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219832 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219874 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219896 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219901 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219904 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219974 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219978 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219979 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219983 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219997 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220003 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220064 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220106 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220124 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220136 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220165 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220212 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220242 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220277 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220315 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220406 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220408 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220507 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220603 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220644 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220675 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220747 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220751 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220772 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220845 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220863 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220876 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220882 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220888 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220942 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221029 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221050 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221099 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221132 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221159 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221292 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221295 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221314 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221347 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221374 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221403 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221457 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221595 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221628 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221641 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221668 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221839 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221888 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221973 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00221995 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222078 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222147 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222168 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222323 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222346 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222421 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222430 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222453 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00222683 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
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