Disease #03021

Official abbreviation LGMD-2L
Name dystrophy, muscular, limb-girdle, type 2L (LGMD-2L)
OMIM ID 611307
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 35
Phenotype entries for this disease 34
Associated with 1 gene ANO5
Associated tissues -
Disease features -
Remarks -


Individuals

35 entries on 1 page. Showing entries 1 - 35.
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00078733 - PubMed: Jarry 2007 family 5 affected siblings, parents first-degree cousins F yes Canada French Canadian >68y 0 - - LGMD-2L iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, no distal weakness ; raised CPK (HP:0003236) 1649; >68y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078734 - PubMed: Jarry 2007 family 5 affected siblings, parents first-degree cousins M yes Canada French Canadian >67y 0 - - LGMD-2L iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4.5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1032; >67y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078735 - PubMed: Jarry 2007 family 5 affected siblings, parents first-degree cousins M yes Canada French Canadian >65y 0 - - LGMD-2L iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1156; >65y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078736 - PubMed: Jarry 2007 family 5 affected siblings, parents first-degree cousins M yes Canada French Canadian >47y 0 - - LGMD-2L iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 6000; >47y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078737 - PubMed: Jarry 2007 family 5 affected siblings, parents first-degree cousins M yes Canada French Canadian - 0 - - LGMD-2L deceased ANO5 ANO5 2 1 Johan den Dunnen
00078738 - PubMed: Bolduc 2010 family affected brother and sister M - Canada French Canadian >43y 0 - - LGMD-2L iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles atrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 8081; >43y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078739 - PubMed: Bolduc 2010 family affected brother and sister F - Canada French Canadian >61y 0 - - LGMD-2L iliopsoas MRC 4.5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, no distal weakness ; raised CPK (HP:0003236) 4061; >61y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078740 - PubMed: Bolduc 2010 - F - Canada French Canadian >64y 0 - - LGMD-2L iliopsoas MRC 3.5, quadriceps atrophy, quadriceps MRC 4.5, calf muscles hypertrophy, distal weakness tibialis ant. 4/5; raised CPK (HP:0003236) 1339; >64y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078792 - - - - - United States - - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078793 - - - - - United States Caucasian - 0 - - LGMD-2L dystrophic muscle biopsy ANO5 ANO5 2 1 Tom Winder
00078794 - - - - - Canada French Canadian - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078795 - - - - - United States - - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078797 - - - F ? United States - - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078798 - - - M - United States Hispanic - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078799 - - - M - United States - - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078800 - - - M - United States Caucasian - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078812 - PubMed: Wahbi 2012 - M - France - - 0 - - LGMD-2L heart failure father, ambulatory with support; raised CPK (HP:0003236) 784; >69y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078813 - PubMed: Wahbi 2012 - M - France - - 0 - - LGMD-2L raised CPK (HP:0003236) 4387; >51y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078816 - PubMed: Wahbi 2012 - M - France - - 0 - - LGMD-2L dyslipidemia, CAD, ambulatory with support; raised CPK (HP:0003236) 1319; >64y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078824 - PubMed: Wahbi 2012 - M - France - - 0 - - LGMD-2L dyslipidemia, ECG left anterior fascicular block, ambulatory with support; raised CPK (HP:0003236) 2615; >56y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078825 - PubMed: Wahbi 2012 - M - France - - 0 - - LGMD-2L raised CPK (HP:0003236) 4400; >59y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078827 - PubMed: Wahbi 2012 - F - France - - 0 - - LGMD-2L raised CPK (HP:0003236) 1058; >45y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078828 - PubMed: Wahbi 2012 - F - France - - 0 - - LGMD-2L ambulatory with support; raised CPK (HP:0003236) 936; >46y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078831 - PubMed: Sarkozy 2012 - M - France - - 0 - - LGMD-2L raised CPK (HP:0003236) 2500-4500; >52y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078832 - PubMed: Sarkozy 2012 - F - France - - 0 - - LGMD-2L raised CPK (HP:0003236) 686; >42y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078833 - PubMed: Sarkozy 2012 - M - France - - 0 - - LGMD-2L hypertrophic calves; raised CPK (HP:0003236) 784-987; >69y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078834 - PubMed: Sarkozy 2012 - M - France - - 0 - - LGMD-2L raised CPK (HP:0003236) 1717-3000; >55y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078835 - PubMed: Sarkozy 2012 - M - France - - 0 - - LGMD-2L muscle pain, axial weakness; raised CPK (HP:0003236) 1200-2200; >64y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078837 - PubMed: Sarkozy 2012 - M - Germany - - 0 - - LGMD-2L raised CPK (HP:0003236) 300-2000; >58y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078838 - PubMed: Sarkozy 2012 - M - Germany - - 0 - - LGMD-2L raised CPK (HP:0003236) 1700-2900; >29y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078840 - PubMed: Sarkozy 2012 2-generation family, 1 affected M - Germany - - 0 - - LGMD-2L raised CPK (HP:0003236) 4200-22000; >32y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078843 - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - - 0 - - LGMD-2L knee hyperextension, calf pseudohypertrophy; raised CPK (HP:0003236) 2122; >63y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078870 - - - M - Canada - - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00078872 - - - M - United States - - 0 - - LGMD-2L - ANO5 ANO5 2 1 Tom Winder
00301514 - - - M - Greece - 16y 0 - - LGMD-2L - ANO5 ANO5 2 1 Helen Latsoudis
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