All individuals with variants in gene ANO5

416 entries on 5 pages. Showing entries 1 - 100.
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00065234 - Fichna ESHG2016 P10.20 3-generation family, 2 affecteds (2M) M no Poland - - 0 - - LGMD - 2 2 Johan den Dunnen
00073766 27068316-FamPatII2 PubMed: Duong 2016, Journal: Duong 2016 3-generation family, 8 affetecds (4F, 4M), case 1 (PatII2) M - Germany;Italy - >41y 0 - - GDD mandibular osteomyelitis (HP:0007626), increased susceptibility to fractures (HP:0002659), ... 1 8 Pieter Klap
00074345 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - 2 1 Johan den Dunnen
00074346 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - 1 1 Johan den Dunnen
00074347 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - 1 1 Johan den Dunnen
00074348 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - 1 1 Johan den Dunnen
00074349 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - 1 1 Johan den Dunnen
00074350 - Fichna ESHG2016 P10.20 - - no Poland - - 0 - - GDD - 1 1 Johan den Dunnen
00078730 - PubMed: Akasaka 1969 4-generation family 17 affecteds - - Japan - - 0 - - GDD frequent bone fractures, propensity jaw infection, often suffer from purulent osteomyelitis-like symptoms (swelling of/pus discharge from gums, mobility teeth, insufficient healing after tooth extraction, exposure lesions into oral cavity), extragnathic skeletal changes (generalized coarse bony trabeculae, gross thickening diaphyseal cortices long bones) 1 17 Johan den Dunnen
00078731 - PubMed: Tsutsumi 2004 father of 15124103_AAs M - United States African American - 0 - - GDD - 1 1 Johan den Dunnen
00078732 - PubMed: Tsutsumi 2004 son of 15124103_AAf M - United States African American - 0 - - GDD - 1 1 Johan den Dunnen
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) 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) 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) 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) 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 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) 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) 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) 2 1 Johan den Dunnen
00078741 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >44y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC Sin 4, quadriceps atrophy, quadriceps MRC 4 > 2, calf muscles hypertrophy, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 15860; >44y walking (-HP:0006957) 2 1 Johan den Dunnen
00078742 - PubMed: Jaiswal 2007, PubMed: Mahjneh 2010 family 2 affected brothers M - Finland - >50y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 12290; >50y walking (-HP:0006957) 2 1 Johan den Dunnen
00078743 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >72y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 4, no quadriceps atrophy, quadriceps MRC 4, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 5400; >72y walking (-HP:0006957) 2 1 Johan den Dunnen
00078744 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >67y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 5, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4500; >67y walking (-HP:0006957) 2 1 Johan den Dunnen
00078745 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >53y 0 - - dystrophy, muscular, Miyoshi, type 3 iliopsoas MRC 5, no quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, distal weakness calf muscles 2/5; raised CPK (HP:0003236) 4800; >53y walking (-HP:0006957) 2 1 Johan den Dunnen
00078746 - PubMed: Bolduc 2010 - - - United Kingdom (Great Britain) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00078747 - PubMed: Bolduc 2010 - - - Netherlands - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00078748 - - - M - United States - - 0 - - dystrophy, muscular, Miyoshi, type 3 - 2 1 Tom Winder
00078749 - Bolduc ASHG2011 A114 - - - - - - 0 - - LGMD IHC ANO5 striated signal preserved 1 1 Johan den Dunnen
00078750 - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >61y 0 - - LGMD able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (wrist, TA), sleep apnoea, diabetes; raised CPK (HP:0003236) 3500; walking (-HP:0006957) 2 1 Johan den Dunnen
00078751 - - 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - 68y 0 - - LGMD no scapular winging; diabetes: deceased (cancer, bladder); raised CPK (HP:0003236) 4500; walking (-HP:0006957) 2 1 Johan den Dunnen
00078752 - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >50y 0 - - LGMD unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, hamstrings, gastrocnemius; no scapular winging; myoglobinuria; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957) 2 1 Johan den Dunnen
00078753 - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >45y 0 - - LGMD difficulty walk on toes; difficulty walk on heels; muscle atrophy biceps, brachioradialis, quadriceps, hamstrings; scapular winging; raised CPK (HP:0003236) 4000-8000; walking (-HP:0006957) 2 1 Johan den Dunnen
00078754 - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >68y 0 - - LGMD unable walk on toes; difficulty walk on heels; muscle atrophy Deltoids, biceps, triceps, quadriceps; no scapular winging; knee hyperextension, foot drop, IHD; raised CPK (HP:0003236) 3000; progressive inability to walk (HP:0002505) restricted 2 1 Johan den Dunnen
00078755 - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >37y 0 - - LGMD able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); scapular winging; knee hyperextension, contractures (wrist, fingers); raised CPK (HP:0003236) 5000; progressive inability to walk (HP:0002505) restricted 2 1 Johan den Dunnen
00078756 - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >43y 0 - - LGMD able walk on toes; unable walk on heels; muscle atrophy brachioradialis, hamstrings, medial gastrocnemius; no scapular winging; knee hyperextension; raised CPK (HP:0003236) 5300; walking (-HP:0006957) 2 1 Johan den Dunnen
00078757 - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >61y 0 - - LGMD able walk on toes; able walk on heels; muscle atrophy biceps, brachioradialis, pectoralis, quadriceps, hamstrings (assymetry); scapular winging (assymetry); knee hyperextension, calf hypertrophy, contractures (wrist, fingers); raised CPK (HP:0003236) 2400-3400; walking (-HP:0006957) 2 1 Johan den Dunnen
00078758 - PubMed: Sarkozy 2012 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >54y 0 - - LGMD unable walk on toes; unable walk on heels; muscle atrophy quadriceps, medial gastrocnemius; scapular winging; knee hyperextension; raised CPK (HP:0003236) 1800-10 000; walking (-HP:0006957) 2 1 Johan den Dunnen
00078759 - PubMed: Hicks 2011 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >57y 0 - - LGMD unable walk on toes; able walk on heels; muscle atrophy medial gastrocnemius; no scapular winging; contractures (Achilles tendons); raised CPK (HP:0003236) 3900; walking (-HP:0006957) 2 1 Johan den Dunnen
00078760 - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >56y 0 - - LGMD unable walk on toes; able walk on heels; muscle atrophy biceps focally, glutei, quadriceps, hamstrings, medial gastrocnemius (assymetry); no scapular winging; knee hyperextension; raised CPK (HP:0003236) 2500; walking (-HP:0006957) 2 1 Johan den Dunnen
00078761 - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >47y 0 - - LGMD unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves (assymetry); no scapular winging; raised CPK (HP:0003236) 4500; walking (-HP:0006957) 2 1 Johan den Dunnen
00078762 - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >55y 0 - - LGMD able walk on toes; difficulty walk on heels; muscle atrophy biceps focally, quadriceps, hamstrings, medial gastrocnemius (assymetry); scapular winging; knee hyperextension; raised CPK (HP:0003236) 4100; walking (-HP:0006957) 2 1 Johan den Dunnen
00078763 - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >40y 0 - - LGMD unable walk on toes; able walk on heels; muscle atrophy quadriceps and calves (assymetry); no scapular winging; raised CPK (HP:0003236) 3000-7000; walking (-HP:0006957) 2 1 Johan den Dunnen
00078764 - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >58y 0 - - LGMD unable walk on toes; unable walk on heels; muscle atrophy biceps focally, thighs; no scapular winging; raised CPK (HP:0003236) 4400; walking (-HP:0006957) 2 1 Johan den Dunnen
00078765 - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >49y 0 - - LGMD unable walk on toes; unable walk on heels; muscle atrophy severe wasting LL muscles; scapular winging (assymetry); raised CPK (HP:0003236) 2900-3500; progressive inability to walk (HP:0002505) severely restricted 2 1 Johan den Dunnen
00078766 - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >48y 0 - - LGMD able walk on toes; difficulty walk on heels; muscle atrophy quadriceps; no scapular winging; calf hypertrophy, myoglobinuria; raised CPK (HP:0003236) 800-4700; walking (-HP:0006957) 2 1 Johan den Dunnen
00078767 - PubMed: Hicks 2011 - M - Germany - >35y 0 - - LGMD difficulty walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves; no scapular winging; onset late teens; raised CPK (HP:0003236) 5000; walking (-HP:0006957) 2 1 Johan den Dunnen
00078768 - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >58y 0 - - LGMD able walk on toes; difficulty walk on heels; muscle atrophy medial gastrocnemius (assymetry); no scapular winging; raised CPK (HP:0003236) 300-2000; walking (-HP:0006957) 2 1 Johan den Dunnen
00078769 - PubMed: Hicks 2011 2-generation family, 2 affected brothers M - Germany - >56y 0 - - LGMD unable walk on toes; unable walk on heels; muscle atrophy quadriceps, calves; scapular winging (assymetry); myoglobinuria; raised CPK (HP:0003236) 1700-3000; progressive inability to walk (HP:0002505) restricted 2 1 Johan den Dunnen
00078770 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal upper/lower limbs 2 1 Johan den Dunnen
00078771 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - F - Finland - - 0 - - ? myositis; highCK, occasional lymphocytic infiltrations; raised CPK (HP:0003236) high 2 1 Johan den Dunnen
00078772 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal upper/lower limbs 2 1 Johan den Dunnen
00078773 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal lower limbs, EMG neurogenic 2 1 Johan den Dunnen
00078774 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; weakness proximal lower limbs 2 1 Johan den Dunnen
00078775 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - 0 - - MPD myopathy, distal, calf; distal lower limb calf weakness, atrophy 2 1 Johan den Dunnen
00078776 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - 0 - - MPD myopathy, distal, calf; distal lower limb calf weakness, atrophy 2 1 Johan den Dunnen
00078777 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 family, 3 affecteds M - United States German - 0 - - MPD myopathy, distal, calf 2 1 Johan den Dunnen
00078778 - Penttila WMS2010 P1.26, PubMed: Penttila 2012 - - - Finland - - 0 - - MPD myopathy, distal, calf; distal lower limb calf weakness, atrophy 2 1 Johan den Dunnen
00078779 - - - - - United States - - 0 - - MPD myopathy, Miyoshi, distal 2 1 Tom Winder
00078780 - - - - - United States - - 0 - - LGMD - 2 1 Tom Winder
00078781 - - - M - United States - - 0 - - MPD myopathy, Miyoshi 2 1 Tom Winder
00078782 - PubMed: Milone 2011 - F - Ireland;Poland - - 0 - - ? anoctaminopathy, exercize intolerance, late-onset proximal leg weaknes, recurrent rhabdomyolysis; muscle biopsy amyloid deposits blood vessel walls/around muscle fibers; childhood onset; raised CPK (HP:0003236) 444-22000; >53y walking (-HP:0006957) 2 1 Tom Winder
00078783 - - - F - United States Caucasian - 0 - - MPD myopathy, Miyoshi; normal dysferlin on biopsy staining 2 1 Tom Winder
00078784 - - - - - United States Caucasian - 0 - - MPD myopathy, distal, Miyoshi; distal leg weakness, atrophy; raised CPK (HP:0003236) 1000-1800; IHC normal, DYSF, DMD, SGCA 2 1 Tom Winder
00078785 - - - M - United States Caucasian - 0 - - MPD myopathy, Miyoshi, distal 2 1 Tom Winder
00078786 - PubMed: Deschauer 2011 - F - Germany - - 0 - - MD raised CPK (HP:0003236) 30x; >70y walking (-HP:0006957) 2 1 Johan den Dunnen
00078787 - PubMed: Sarkozy 2012 - M - Germany - - 0 - - MD raised CPK (HP:0003236) 241-2603; >52y walking (-HP:0006957) 2 1 Johan den Dunnen
00078788 - PubMed: Sarkozy 2012 brother of 21739273-Pat3b M - Germany - - 0 - - MD raised CPK (HP:0003236) 1500-6100; >56y walking (-HP:0006957) 2 1 Johan den Dunnen
00078789 - PubMed: Sarkozy 2012 sister of 21739273-Pat3a F - Germany - - 0 - - MD raised CPK (HP:0003236) 2280; >52y walking (-HP:0006957) 2 1 Johan den Dunnen
00078790 - PubMed: Sarkozy 2012 - M - Germany - - 0 - - MD raised CPK (HP:0003236) 5000; >35y walking (-HP:0006957) 2 1 Johan den Dunnen
00078791 - Bolduc ASHG2011 A114 - - - - - - 0 - - LGMD IHC ANO5 striated signal preserved 3 1 Johan den Dunnen
00078792 - - - - - United States - - 0 - - LGMD-2L - 2 1 Tom Winder
00078793 - - - - - United States Caucasian - 0 - - LGMD-2L dystrophic muscle biopsy 2 1 Tom Winder
00078794 - - - - - Canada French Canadian - 0 - - LGMD-2L - 2 1 Tom Winder
00078795 - - - - - United States - - 0 - - LGMD-2L - 2 1 Tom Winder
00078796 - - - F - United States European - 0 - - MPD progressive distal myopathy 2 1 Tom Winder
00078797 - - - F ? United States - - 0 - - LGMD-2L - 2 1 Tom Winder
00078798 - - - M - United States Hispanic - 0 - - LGMD-2L - 2 1 Tom Winder
00078799 - - - M - United States - - 0 - - LGMD-2L - 2 1 Tom Winder
00078800 - - - M - United States Caucasian - 0 - - LGMD-2L - 2 1 Tom Winder
00078801 - PubMed: Witting 2012 2-generation family, affected male M - Denmark - - 0 - - hCK left facial palsy caused by a schwannoma; no muscle wasting/weakness; 15y-myopathy, central nuclei, increased variability, regenerating fibers, no necrotic fibers fiber size; raised CPK (HP:0003236) 2700-25000; >17y walking (-HP:0006957) 2 1 Johan den Dunnen
00078802 - PubMed: Witting 2012 2-generation family, affected sister F - Denmark - - 0 - - hCK no muscle/bone abnormalities; raised CPK (HP:0003236) 555-2990; >14y walking (-HP:0006957) 2 1 Johan den Dunnen
00078803 - PubMed: Witting 2012 2-generation family, unaffected carrier parent and sister ? - Denmark - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00078804 - PubMed: Witting 2012 2-generation family, unaffected carrier parent and brother ? - Denmark - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00078805 - PubMed: Marconi 2012 6-generation family, 15 affecteds F - Italy - >41y 0 - - GDD cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, jaw bones sclerosis, right jaw angle structural rearrangement, jaw odontoid cystis with included tooth purulent osteomyelitis; raised CPK (HP:0003236) 809 mU/ml 1 11 Johan den Dunnen
00078806 - PubMed: Marconi 2012 6-generation family, 15 affecteds M - Italy - >42y 0 - - GDD spontaneous fractures vertebras, fibula, thighbones, radius/ulna, III right metatarsus, right iliac wing, hallux, healing problems after extraction wisdom teeth, cotton-wool-like pattern bony structure mandible, bone thickening jaws, areas cotton-wool-like pattern of alveolar region; raised CPK (HP:0003236) 112 mU/ml 1 1 Johan den Dunnen
00078807 - PubMed: Marconi 2012 6-generation family, 15 affecteds M - Italy - >76y 0 - - GDD cemento-osseous lesions jaw bones, purulent osteomyelitis, bilateral osteolysis, jaw structural rearrangement, slow-healing fractured right knee/V left finger; raised CPK (HP:0003236) 89 mU/ml 1 1 Johan den Dunnen
00078808 - PubMed: Marconi 2012 6-generation family, 15 affecteds F - Italy - >70y 0 - - GDD cemento-osseous lesions jaw bones, purulent osteomyelitis, no slow-healing fractured bones 1 1 Johan den Dunnen
00078809 - PubMed: Marconi 2012 6-generation family, 15 affecteds F - Italy - >75y 0 - - GDD cemento-osseous lesions jaw bones, inferior arch sclerosis, bilateral periodontopathy, bones thickening areas, slow-healing fractured thighbones/humerus; raised CPK (HP:0003236) 132 mU/ml 1 1 Johan den Dunnen
00078810 - PubMed: Sarkozy 2012 2-generation family, 2 affecteds (brothers), unaffected carrier parents M - France - - 0 - - MPD myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) 876-3138; >21y walking (-HP:0006957) 2 1 Johan den Dunnen
00078811 - PubMed: Sarkozy 2012 2-generation family, 2 affecteds (brothers), unaffected carrier parents M - France - - 0 - - MPD myopathy, distal, Myoshi-like; initial calf muscles involvement, asymmetric muscle atrophy preceding weakness; raised CPK (HP:0003236) high; >21y walking (-HP:0006957) 2 1 Johan den Dunnen
00078812 - PubMed: Wahbi 2012 - M - France - - 0 - - LGMD-2L heart failure father, ambulatory with support; raised CPK (HP:0003236) 784; >69y walking (-HP:0006957) 2 1 Johan den Dunnen
00078813 - PubMed: Wahbi 2012 - M - France - - 0 - - LGMD-2L raised CPK (HP:0003236) 4387; >51y walking (-HP:0006957) 2 1 Johan den Dunnen
00078814 - PubMed: Wahbi 2012 - M - France - - 0 - - hCK raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957) 2 1 Johan den Dunnen
00078815 - PubMed: Wahbi 2012 - M - France - - 0 - - MPD myopathy, pseudo-metabolic (PMM); ECG early repolarisation syndrome; raised CPK (HP:0003236) 5089; >30y walking (-HP:0006957) 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) 2 1 Johan den Dunnen
00078817 - PubMed: Wahbi 2012 - M - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 raised CPK (HP:0003236) 3000; >54y walking (-HP:0006957) 2 1 Johan den Dunnen
00078818 - PubMed: Wahbi 2012 - M - France - - 0 - - MPD myopathy, proximo-distal; ambulatory with support; raised CPK (HP:0003236) 4662; >52y walking (-HP:0006957) 2 1 Johan den Dunnen
00078819 - PubMed: Wahbi 2012 - M - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 ECG left ventricular hypertrophy; raised CPK (HP:0003236) 1433; >30y walking (-HP:0006957) 2 1 Johan den Dunnen
00078820 - PubMed: Wahbi 2012 - M - France - - 0 - - dystrophy, muscular, Miyoshi, type 3 raised CPK (HP:0003236) 2991; >33y walking (-HP:0006957) 2 1 Johan den Dunnen
00078821 - PubMed: Wahbi 2012 - M - France - - 0 - - hCK raised CPK (HP:0003236) 3138; >21y walking (-HP:0006957) 2 1 Johan den Dunnen
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