Phenotypes for disease #05126 (LGMD (dystrophy, muscular, limb-girdle (LGMD)))

3479 entries on 35 pages. Showing entries 1 - 100.
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Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

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Individual ID     
0000044616 adult-onset LGMD; 61y wheelchair bound - - Unknown - - - - - Tom Winder 00057985
0000045042 - - - Isolated (sporadic) - - - - - Claire Chauveau 00058411
0000045046 - - - Familial, autosomal recessive - - - - - Claire Chauveau 00058415
0000045061 childhood-onsset - - Isolated (sporadic) - - - - - Johan den Dunnen 00058430
0000051341 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00065234
0000051891 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00072186
0000051892 severe limb-girdle muscular dystrophy (HP:0006785), cardiomyopathy (HP:0001638), proximal muscle weakness (HP:0003701), distal muscle weakness (HP:0002460) - - Familial, autosomal recessive - - - - - Jamie Zeegers 00072187
0000052851 no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 38y - 34y Difficulty climbing stairs (HP:0003551) - Pieter Klap 00073181
0000052852 no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 45y - 35y Difficulty climbing stairs (HP:0003551) - Pieter Klap 00073182
0000052853 myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 33y - 29y Difficulty walking (HP:0002355) - Pieter Klap 00073183
0000052867 no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 34y - 27y Difficulty climbing stairs (HP:0003551) - Pieter Klap 00073196
0000052869 no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 40y - 35y Waddling gait (HP:0002515) - Pieter Klap 00073198
0000052870 no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 26y - 16y Difficulty climbing stairs (HP:0003551) - Pieter Klap 00073199
0000052872 no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 37y - 34y Difficulty to rise from floor (HP:0004302) - Pieter Klap 00073201
0000052874 no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) - - Familial, autosomal recessive 28y - 18y Difficulty walking (HP:0002355) - Pieter Klap 00073203
0000052972 Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) - - Familial, autosomal recessive - - 27y - - Pieter Klap 00073297
0000052974 Elevated serum creatine phosphokinase (HP:0003236), myositis (HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) - - Familial, autosomal recessive - - 19y - - Pieter Klap 00073299
0000052975 Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) - - Familial, autosomal recessive - - 15y - - Pieter Klap 00073300
0000053391 Seizures (HP:0001250), Elevated hepatic transaminases (HP:0002910), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), - - Familial, autosomal recessive <19y 19y 10y Elevated serum creatine phosphokinase (HP:0003236) - Pieter Klap 00073658
0000053393 no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to rise from floor (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), - - Familial, autosomal recessive 26y - 19y - - Pieter Klap 00073659
0000053396 no scapular winging (-HP:0003691), unable to stand on tiptoes (HP:0004302), unable to get up from a chair (HP:0004302), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), - - Familial, autosomal recessive 39y - 29y - - Pieter Klap 00073660
0000058508 IHC ANO5 striated signal preserved - - Unknown - - - - - Johan den Dunnen 00078749
0000058509 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) - - Unknown 61y - <50y difficulty walking - Johan den Dunnen 00078750
0000058510 no scapular winging; diabetes: deceased (cancer, bladder); raised CPK (HP:0003236) 4500; walking (-HP:0006957) - - Unknown 68y - <60y difficulty walking - Johan den Dunnen 00078751
0000058511 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) - - Unknown 50y - <30y aaches and pain - Johan den Dunnen 00078752
0000058512 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) - - Unknown 45y - <30y difficulty walking - Johan den Dunnen 00078753
0000058513 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 - - Unknown 68y - <30y difficulty walking - Johan den Dunnen 00078754
0000058514 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 - - Unknown 37y - <30y difficulty walking - Johan den Dunnen 00078755
0000058515 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) - - Unknown 43y - <30y difficulty walking - Johan den Dunnen 00078756
0000058516 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) - - Unknown 61y - <50y weakness uper limb - Johan den Dunnen 00078757
0000058517 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) - - Unknown 54y - <30y difficulties standing on toes - Johan den Dunnen 00078758
0000058518 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) - - Unknown 57y - <50y difficulties standing on toes - Johan den Dunnen 00078759
0000058519 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) - - Unknown 56y - <30y difficulties standing on toes - Johan den Dunnen 00078760
0000058520 unable walk on toes; difficulty walk on heels; muscle atrophy quadriceps, calves (assymetry); no scapular winging; raised CPK (HP:0003236) 4500; walking (-HP:0006957) - - Unknown 47y - <40y calf wasting - Johan den Dunnen 00078761
0000058521 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) - - Unknown 55y - <40y stiffness, knee problems - Johan den Dunnen 00078762
0000058522 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) - - Unknown 40y - <40y difficulty walking - Johan den Dunnen 00078763
0000058523 unable walk on toes; unable walk on heels; muscle atrophy biceps focally, thighs; no scapular winging; raised CPK (HP:0003236) 4400; walking (-HP:0006957) - - Unknown 58y - <50y difficulty walking - Johan den Dunnen 00078764
0000058524 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 - - Unknown 49y - <40y difficulty walking - Johan den Dunnen 00078765
0000058525 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) - - Unknown 48y - <40y decreasing sport performance - Johan den Dunnen 00078766
0000058526 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) - - Unknown 35y - <20y decreasing sport performance - Johan den Dunnen 00078767
0000058527 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) - - Unknown 58y - <50y elevated CK - Johan den Dunnen 00078768
0000058528 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 - - Unknown 56y - <40y difficulties standing on toes - Johan den Dunnen 00078769
0000058539 - - - Unknown - - - - - Tom Winder 00078780
0000058550 IHC ANO5 striated signal preserved - - Unknown - - - - - Johan den Dunnen 00078791
0000058623 lower limbs affected; atrophy quadriceps, posterior compartment; muscle weakness quadriceps/biceps femorii; no calf pseudo hypertrophy, no cramps, no myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 6-11x; >47y walking (-HP:0006957) - - Isolated (sporadic) - - 39y myoglobinuria - Johan den Dunnen 00078864
0000058624 distal involvement, atrophy harmstrings/quadriceps, muscle weakness quadriceps/biceps femorii; calf pseudo hypertrophy, cramps, myalgia, no myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 5-32x; >51y walking (-HP:0006957) - - Isolated (sporadic) - - 15y mild weakness - Johan den Dunnen 00078865
0000058625 almost asymptomatic, lower lower limbs, atrophy harmstrings/quadriceps, muscle weakness biceps femorii; calf pseudo hypertrophy, no cramps, no myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 15-31x; >43y walking (-HP:0006957) - - Isolated (sporadic) - - 33y hyperCKemia, asymptomatic - Johan den Dunnen 00078866
0000058626 lower limbs affected, atrophy quadriceps, muscle weakness quadriceps; calf pseudo hypertrophy, cramps, myalgia, no cardiac involvement, no respiratory involvement; EMG myopatic; raised CPK (HP:0003236) 16x; >45y walking (-HP:0006957) - - Isolated (sporadic) - - 28y fatigability, cramps - Johan den Dunnen 00078867
0000058628 four limbs affected, atrophy asymmetric quadriceps, muscle weakness quadriceps, no calf pseudo hypertrophy, cramps, myalgia, myoglobinuria, no cardiac involvement, no respiratory involvement; EMG myopathic; raised CPK (HP:0003236) 2x; >50y walking (-HP:0006957) - - Isolated (sporadic) - - 47y myalgias,hyposthenia - Johan den Dunnen 00078869
0000058630 onset young adult; muscular histopathology dystrophic features, discrete mitochondrial alterations with sporadic ragged-red fibers,cytochrome c oxidase negative fibers - - Isolated (sporadic) - - - - - Johan den Dunnen 00078871
0000058633 - - - Familial, autosomal recessive - - - - - Tom Winder 00078874
0000058634 - - - Familial, autosomal recessive - - - - - Tom Winder 00078875
0000058635 muscle biopsy shows evidence of end stage muscle features; raised CPK (HP:0003236) moderately elevated LGMD LGMD2I Familial - - 09y - - Jaya Punetha 00078876
0000058636 muscle biopsy shows mild dystrophic process with 30% internal nuclei; raised CPK (HP:0003236) highly elevated - - Familial - - 15y - - Jaya Punetha 00078877
0000080630 dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 689; wheelchair bound >29y - - Familial - - 15y - - Nacim Louhichi 00102454
0000080714 dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 1232; wheelchair bound 29y - - Familial, autosomal recessive - - 16y - - Nacim Louhichi 00102538
0000080715 dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 337; wheelchair bound 33y - - Familial, autosomal recessive - - 16y - - Nacim Louhichi 00102539
0000080716 dystrophy, muscular, limb-girdle; no calve hypertrophy; functional grade 9; CPK: 452; wheelchair bound 24y - - Familial, autosomal recessive - - 10y - - Nacim Louhichi 00102540
0000080718 dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 2522; wheelchair bound >20y - - Familial, autosomal recessive - - 14y - - Nacim Louhichi 00102542
0000085790 - - - Unknown - - - - IHC CAV3 normal Johan den Dunnen 00108196
0000085798 - - - Familial - - - - IHC CAV3 normal, WB reduced Maria Chiotis 00108204
0000085805 CPK 1578 - - Unknown - - ? - - Johan den Dunnen 00108211
0000085806 phenotype with myalgia, muscle cramps; CPK 800 - - Isolated (sporadic) - 4y - - IHC CAV3 near negative; nNOS negative, DAG1 strongly reduced Johan den Dunnen 00108212
0000085812 CPK 600 - - Unknown - - 10y - WB CAV3 5% Johan den Dunnen 00108218
0000085813 - - - Familial - - - - - Ottie O'Brien 00108219
0000085820 - - - Unknown - - - - IHC CAV3 normal Johan den Dunnen 00108226
0000085825 - - - Unknown - - - - - Johan den Dunnen 00108231
0000085828 limb-girdle muscular dystrophy, type 1C - - Familial - - - - - Johan den Dunnen 00108234
0000085829 - - - Unknown - - - - IHC CAV3 reduced, DYSF patchy and speckled cytoplasmic Johan den Dunnen 00108235
0000085832 - - - Unknown - - - - - Johan den Dunnen 00108238
0000085834 - - - Isolated (sporadic) - - - - - Ieke Ginjaar 00108240
0000085838 - - - Unknown - - - - - Ottie O'Brien 00108244
0000085839 intrafamilial phenotypic heterogeneity, hCK/limb-girdle muscular dystrophy/RMD - - Familial - - - - CAV3 heart 60%, CAV IHC strongly reduced / WB absent Johan den Dunnen 00108245
0000085841 limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, weakness proximal upper & lower limbs, mild hypertrophy, no pain, EMG myopathic features, biopsy normal; CPK 1340 - - Isolated (sporadic) - - <6y tip toe walking IHC/WB CAV3 absent Ottie O'Brien 00108247
0000085842 limb-girdle muscular dystrophy, type 1C, muscle cramping and calf hypertrophy - - Familial - - - - - Johan den Dunnen 00108248
0000085851 myalgia, reduced muscle strength - - Unknown - - 71y - WB, IHC >90% CAV3 reduction, IHC DYSF reduced Johan den Dunnen 00108257
0000085855 variable phenotype (asymptomatic 86y female), limb-girdle muscular dystrophy-1C/RMD - - Unknown - - - - - Johan den Dunnen 00108261
0000085857 limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, no weakness, generalised hypertrophy, pain, EMG myopathic features, sponteneous activities at rest, biopsy mild fibre size variation; CPK 5000 - - Familial - - <7y pain & rippling IHC CAV3 markedly reduced, DYSF weak, WB CAV3 absent Ottie O'Brien 00108263
0000085858 CPK 1251 - - Isolated (sporadic) - 53y 51y cramps hand (after exertion or cold) IHC/WB no CAV3 Maria Chiotis 00108264
0000085859 variable phenotype, limb-girdle muscular dystrophy-1C/RMD/MPD - - Familial - - - - CAV3 IHC drastic decrease Johan den Dunnen 00108265
0000085863 died >6y;>33y; CPK 3430;1700, age onset 3y;? - - Familial - - - - IHC CAV3 near absent, DYSF reduced, normal for DMD, SGC, LAMA2 Johan den Dunnen 00108269
0000085865 asymmetric muscle weakness; CPK 830, not wheelchair bound - - Isolated (sporadic) 57y - 43y muscle weakness, difficulty climbing stairs IHC CAV3 near negative; nNOS negative, DAG1 strongly reduced Johan den Dunnen 00108271
0000085866 CPK raised - - Unknown - - ? - - Johan den Dunnen 00108272
0000085867 CPK raised - - Unknown - - 3y - IHC CAV3 near absent, DYSF reduced, normal for DMD, SGC, LAMA2 Johan den Dunnen 00108273
0000085868 - - - Unknown - - - - - Ottie O'Brien 00108274
0000085872 - - - Unknown - - - - - Ottie O'Brien 00108278
0000085882 slow; left ventricular hypocinesia; CPK 6x - - Familial - - 49y - IHC CAV3 absent, WB 0% Johan den Dunnen 00108288
0000085883 slow; CPK 2x - - Familial - - 13y - IHC CAV3 absent, WB 0% Johan den Dunnen 00108289
0000085884 slow; CPK 8x - - Familial - - 10y - - Johan den Dunnen 00108290
0000085885 slow; cardiac function normal - - Familial - - 13y - - Johan den Dunnen 00108291
0000085886 slow - - Familial - - 20y - - Johan den Dunnen 00108292
0000085887 slow; CPK 6x - - Familial - - 30y - IHC CAV3 absent, WB 0% Johan den Dunnen 00108293
0000085888 slow; cardiac function normal; CPK 6x - - Familial - - 3y - - Johan den Dunnen 00108294
0000085889 slow; CPK 5x - - Familial - - 38y - IHC CAV3 absent, WB 0% Johan den Dunnen 00108295
0000085890 slow - - Familial - - 20y - IHC CAV3 absent, WB 0% Johan den Dunnen 00108296
0000085891 slow - - Familial - - ? - - Johan den Dunnen 00108297
0000085935 cardiomyopathy, dilated/dystrophy, muscular, limb-girdle; exercise-indiced myalgias, premature fatigue, dyspnea, hypotonia, proximal weakness, hypotrophy upper limbs, hypertrophy lower limbs; CPK >1500 IU/l - - Isolated (sporadic) - - 47y cardiomyopathy - Johan den Dunnen 00108341
0000085944 limb-girdle muscular dystrophy-1C; RMD; Crippling, PIRCs, no weakness, mild hypertrophy, pain; CPK 1070 - - Familial - - 15y cramps & rippling - Ottie O'Brien 00108350
0000085947 CPK 2400 - LGMD1C Unknown - - 37y - IHC DMD normal Johan den Dunnen 00108353
0000085952 - - - Familial - - 1y6m - - Wolfram Kress 00108358
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