Disease #04286 (LGMD1 (dystrophy, muscular, limb-girdle, autosomal dominant, type 1 (LGMD-1)))

Official abbreviation LGMD1
Name dystrophy, muscular, limb-girdle, autosomal dominant, type 1 (LGMD-1)
OMIM ID -
Inheritance -
Individuals reported having this disease 17
Phenotype entries for this disease 18
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2015-06-19 22:12:47 +02:00 (CEST)
Date last edited 2021-12-11 13:56:28 +01:00 (CET)


Individuals

17 entries on 1 page. Showing entries 1 - 17.
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00108759 ? PubMed: Scacheri 2002 large 4 generation family - - United States white - - - - LGMD1 LGMD-AD COL6A1 COL6A1 1 1 Johan den Dunnen
00108790 - PubMed: Scacheri 2002, OMIM:var0005 large 3 generation family, 9 affecteds - - United States white - - - - LGMD1 LGMD-AD COL6A2 COL6A2 1 9 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 DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 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) DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 1 9 Johan den Dunnen
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 DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 1 20 Johan den Dunnen
00205433 - - - F - United States - - - - - LGMD1 limb girdle weakness; no elevated serum creatine phosphokinase (-HP:0003236) DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 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, Gower’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 DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 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, Gower’s maneuver; elevated serum creatine phosphokinase (HP:0003236) 233; still walking >35y DNAJB6 DNAJB6 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 DNAJB6 DNAJB6 1 4 Johan den Dunnen
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