
 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|
 Genes screened
|
 Variants in genes
|

 Variants
|

 Panel size
|

 Owner
|
00057985 |
- |
- |
- |
M |
- |
Canada |
French Canadian |
- |
- |
- |
- |
LGMD |
adult-onset LGMD; 61y wheelchair bound |
TTN |
TTN |
1 |
1 |
Tom Winder |
00058411 |
- |
PubMed: Udd 2005, PubMed: Evila 2014 |
- |
? |
no |
Finland |
- |
- |
- |
- |
- |
LGMD |
- |
TTN |
TTN |
2 |
1 |
Claire Chauveau |
00058415 |
- |
PubMed: Evil‰ 2014 |
- |
F |
no |
Finland |
- |
- |
- |
- |
- |
LGMD |
- |
TTN |
TTN |
2 |
1 |
Claire Chauveau |
00058430 |
- |
PubMed: Udd 2005, PubMed: Evila 2014 |
- |
? |
no |
Finland |
- |
- |
- |
- |
- |
LGMD |
childhood-onsset |
TTN |
TTN |
2 |
1 |
Johan den Dunnen |
00065234 |
- |
Fichna ESHG2016 P10.20 |
3-generation family, 2 affecteds (2M) |
M |
no |
Poland |
- |
- |
- |
- |
- |
LGMD |
- |
ANO5, BAG3 |
ANO5, BAG3 |
3 |
2 |
Johan den Dunnen |
00073181 |
25868377 NP13 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
F |
- |
(Korea, South (Republic)) |
- |
>38y |
- |
- |
- |
LGMD |
no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
2 |
1 |
Pieter Klap |
00073182 |
25868377 NP14 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
F |
- |
(Korea, South (Republic)) |
- |
>45y |
- |
- |
- |
LGMD |
no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
2 |
1 |
Pieter Klap |
00073183 |
25868377 NP15 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
F |
- |
(Korea, South (Republic)) |
- |
>33y |
- |
- |
- |
LGMD |
myositis (HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
2 |
1 |
Pieter Klap |
00073196 |
25868377 NP22 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
F |
- |
(Korea, South (Republic)) |
- |
>34y |
- |
- |
- |
LGMD |
no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
2 |
1 |
Pieter Klap |
00073198 |
25868377 NP24 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
F |
- |
(Korea, South (Republic)) |
- |
>40y |
- |
- |
- |
LGMD |
no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
2 |
1 |
Pieter Klap |
00073199 |
25868377 NP25 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
F |
- |
(Korea, South (Republic)) |
- |
>26y |
- |
- |
- |
LGMD |
no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
3 |
1 |
Pieter Klap |
00073201 |
25868377 NP27 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
F |
- |
(Korea, South (Republic)) |
- |
>37y |
- |
- |
- |
LGMD |
no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
1 |
1 |
Pieter Klap |
00073203 |
25868377 NP29 |
PubMed: Shin 2015, Journal: Shin 2015 |
- |
M |
- |
(Korea, South (Republic)) |
- |
>28y |
- |
- |
- |
LGMD |
no myositis (-HP:0100614), Elevated serum creatine phosphokinase (HP:0003236) |
DYSF |
DYSF |
2 |
1 |
Pieter Klap |
00073297 |
23254335 pt.3 |
PubMed: Zhao 2013, Journal: Zhao 2013 |
- |
M |
- |
China |
- |
>27y |
- |
- |
- |
LGMD |
Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) |
DYSF |
DYSF |
1 |
1 |
Pieter Klap |
00073299 |
23254335 pt.5 |
PubMed: Zhao 2013, Journal: Zhao 2013 |
- |
M |
- |
China |
- |
>19y |
- |
- |
- |
LGMD |
Elevated serum creatine phosphokinase (HP:0003236), myositis (HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) |
DYSF |
DYSF |
1 |
1 |
Pieter Klap |
00073300 |
23254335 pt.6 |
PubMed: Zhao 2013, Journal: Zhao 2013 |
- |
M |
- |
China |
- |
>15y |
- |
- |
- |
LGMD |
Elevated serum creatine phosphokinase (HP:0003236), no myositis (-HP:0100614), Reduced muscle fiber dysferlin (HP:0030115) |
DYSF |
DYSF |
1 |
1 |
Pieter Klap |
00073658 |
25574751 pt.1 |
PubMed: Szymanska 2014, Journal: Szymanska 2014 |
- |
F |
- |
(Poland) |
- |
>19y |
- |
- |
- |
LGMD |
Seizures (HP:0001250), Elevated hepatic transaminases (HP:0002910), Elevated serum creatine phosphokinase (HP:0003236), Absent muscle fiber dysferlin (HP:0030114), |
DYSF |
DYSF |
2 |
1 |
Pieter Klap |
00073659 |
25591676 F1-297-1-2 |
PubMed: Xi 2014, Journal: Xi 2014 |
- |
F |
- |
China |
- |
>26y |
- |
- |
- |
LGMD |
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), |
DYSF |
DYSF |
1 |
1 |
Pieter Klap |
00073660 |
25591676 F1-298-1-2 |
PubMed: Xi 2014, Journal: Xi 2014 |
- |
F |
yes |
China |
- |
>39y |
- |
- |
- |
LGMD |
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), |
DYSF |
DYSF |
1 |
1 |
Pieter Klap |
00078749 |
- |
Bolduc ASHG2011 A114 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGMD |
IHC ANO5 striated signal preserved |
ANO5 |
ANO5 |
1 |
1 |
Johan den Dunnen |
00078750 |
- |
PubMed: Sarkozy 2012 |
2-generation family, 2 affected brothers |
M |
- |
United Kingdom (Great Britain) |
- |
>61y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078751 |
- |
- |
2-generation family, 2 affected brothers |
M |
- |
United Kingdom (Great Britain) |
- |
68y |
- |
- |
- |
LGMD |
no scapular winging; diabetes: deceased (cancer, bladder); raised CPK (HP:0003236) 4500; walking (-HP:0006957) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078752 |
- |
PubMed: Sarkozy 2012 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>50y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078753 |
- |
PubMed: Hicks 2011 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>45y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078754 |
- |
PubMed: Hicks 2011 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>68y |
- |
- |
- |
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 |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078755 |
- |
PubMed: Sarkozy 2012 |
2-generation family, 2 affected brothers |
M |
- |
United Kingdom (Great Britain) |
- |
>37y |
- |
- |
- |
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 |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078756 |
- |
PubMed: Sarkozy 2012 |
2-generation family, 2 affected brothers |
M |
- |
United Kingdom (Great Britain) |
- |
>43y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078757 |
- |
PubMed: Hicks 2011 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>61y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078758 |
- |
PubMed: Sarkozy 2012 |
2-generation family, 2 affected sisters |
F |
- |
United Kingdom (Great Britain) |
- |
>54y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078759 |
- |
PubMed: Hicks 2011 |
2-generation family, 2 affected sisters |
F |
- |
United Kingdom (Great Britain) |
- |
>57y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078760 |
- |
PubMed: Hicks 2011 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>56y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078761 |
- |
PubMed: Sarkozy 2012 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>47y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078762 |
- |
PubMed: Hicks 2011 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>55y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078763 |
- |
PubMed: Sarkozy 2012 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>40y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078764 |
- |
PubMed: Hicks 2011 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>58y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078765 |
- |
PubMed: Hicks 2011 |
2-generation family, 2 affected brothers |
M |
- |
Germany |
- |
>49y |
- |
- |
- |
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 |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078766 |
- |
PubMed: Hicks 2011 |
2-generation family, 2 affected brothers |
M |
- |
Germany |
- |
>48y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078767 |
- |
PubMed: Hicks 2011 |
- |
M |
- |
Germany |
- |
>35y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078768 |
- |
PubMed: Hicks 2011 |
2-generation family, 2 affected brothers |
M |
- |
Germany |
- |
>58y |
- |
- |
- |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078769 |
- |
PubMed: Hicks 2011 |
2-generation family, 2 affected brothers |
M |
- |
Germany |
- |
>56y |
- |
- |
- |
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 |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078780 |
- |
- |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
LGMD |
- |
ANO5 |
ANO5 |
2 |
1 |
Tom Winder |
00078791 |
- |
Bolduc ASHG2011 A114 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LGMD |
IHC ANO5 striated signal preserved |
ANO5 |
ANO5 |
3 |
1 |
Johan den Dunnen |
00078864 |
- |
PubMed: Magrib 2012 |
3-generation family, 1 affected, unaffecteds carrier parents |
M |
no |
Italy |
- |
- |
- |
- |
- |
LGMD |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078865 |
- |
PubMed: Magrib 2012 |
3-generation family, 2 affecteds, unaffecteds carrier parents |
M |
no |
Italy |
- |
- |
- |
- |
- |
LGMD |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078866 |
- |
PubMed: Magrib 2012 |
3-generation family, 2 affecteds, unaffecteds carrier parents |
M |
no |
Italy |
- |
- |
- |
- |
- |
LGMD |
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) |
ANO5 |
ANO5 |
2 |
1 |
Johan den Dunnen |
00078867 |
- |
PubMed: Magrib 2012 |
3-generation family, 2 affecteds, unaffecteds carrier parents and sibs |
M |
no |
Italy |
- |
- |
- |
- |
- |
LGMD |
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) |
ANO5 |
ANO5 |
2 |
2 |
Johan den Dunnen |
00078869 |
- |
PubMed: Magrib 2012 |
5-generation family, 1 affected, unaffected carrier parents and sibs |
M |
yes |
Italy |
- |
- |
- |
- |
- |
LGMD |
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) |
ANO5 |
ANO5 |
2 |
2 |
Johan den Dunnen |
00078871 |
- |
- |
4-generation family, 1 affected |
M |
no |
Spain |
- |
- |
- |
- |
- |
LGMD |
onset young adult; muscular histopathology dystrophic features, discrete mitochondrial alterations with sporadic ragged-red fibers,cytochrome c oxidase negative fibers |
ANO5 |
ANO5 |
1 |
1 |
Johan den Dunnen |
00078874 |
- |
- |
- |
M |
- |
Canada |
- |
- |
- |
- |
- |
LGMD |
- |
ANO5 |
ANO5 |
2 |
1 |
Tom Winder |
00078875 |
- |
- |
- |
M |
- |
Canada |
- |
- |
- |
- |
- |
LGMD |
- |
ANO5 |
ANO5 |
2 |
1 |
Tom Winder |
00078876 |
Pat9 |
PubMed: Punetha 2016 |
- |
M |
yes |
- |
- |
- |
- |
- |
- |
LGMD |
muscle biopsy shows evidence of end stage muscle features; raised CPK (HP:0003236) moderately elevated |
ANO5 |
ANO5 |
1 |
1 |
Jaya Punetha |
00078877 |
Pat16 |
PubMed: Punetha 2016 |
- |
F |
? |
- |
- |
- |
- |
- |
- |
LGMD |
muscle biopsy shows mild dystrophic process with 30% internal nuclei; raised CPK (HP:0003236) highly elevated |
ANO5 |
ANO5 |
1 |
1 |
Jaya Punetha |
00102197 |
09829280-Case1 |
PubMed: Naom 1998 |
sister of 9829280.case2 |
F |
no |
United Kingdom (Great Britain) |
white |
>7y |
- |
- |
- |
LGMD |
gait mild valgus posture both feet, reflexes sluggish, no muscle pseudohypertrophy/wasting; muscle biopsy overtly dystrophic; 7y-Gowersí manoeuvre; CPK: 4025-4621 UI/L; s7m, w23m |
LAMA2 |
LAMA2 |
2 |
2 |
Johan den Dunnen |
00102340 |
09829280-Case2 |
PubMed: Naom 1998 |
brother of 9829280.case1 |
M |
no |
United Kingdom (Great Britain) |
white |
>11y |
- |
- |
- |
LGMD |
23m-waddling gait, difficulty pulling to stand, no calf pseudohypertrophy/joint tightness, reflexes present but difficult to elicit; EMG myopathic features; 2y-muscle biopsy unequivocal dystrophic picture; 4y-Gowersí manoeuvre, mild iliotibial band tightness, no tendo-Achilles contractures; 11y-mild contractures tendo-Achilles/long finger flexors; CPK: 4400 UI/L; h4m, s7m, w18m |
LAMA2 |
LAMA2 |
2 |
2 |
Johan den Dunnen |
00102454 |
20477750-PatIV12 |
- |
5-generation family, branches with CAPN3 and LAMA2 variants |
F |
yes |
Tunisia |
- |
>29y |
- |
- |
- |
LGMD |
dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 689; wheelchair bound >29y |
CAPN3, LAMA2 |
CAPN3 |
1 |
1 |
Nacim Louhichi |
00102519 |
21953594-Pat1 |
PubMed: Gavassini 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGMD |
CPK: 655; IQ low normal; walk |
LAMA2 |
LAMA2 |
2 |
1 |
Johan den Dunnen |
00102520 |
21953594-Pat2 |
PubMed: Gavassini 2011 |
2-generation family, sib of 21953594-Pat3 |
M |
- |
- |
- |
- |
- |
- |
- |
LGMD |
CPK: 309; no mental retardation; walk |
LAMA2 |
LAMA2 |
2 |
1 |
Johan den Dunnen |
00102521 |
21953594-Pat3 |
PubMed: Gavassini 2011 |
2-generation family, sib of 21953594-Pat2 |
F |
- |
- |
- |
- |
- |
- |
- |
LGMD |
CPK: 405; walk |
LAMA2 |
LAMA2 |
2 |
1 |
Johan den Dunnen |
00102522 |
21953594-Pat4 |
PubMed: Gavassini 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGMD |
CPK: 1053; no mental retardation; walk |
LAMA2 |
LAMA2 |
2 |
1 |
Johan den Dunnen |
00102523 |
21953594-Pat5 |
PubMed: Gavassini 2011 |
- |
M |
- |
- |
- |
- |
- |
- |
- |
LGMD |
CPK: 859; walk |
LAMA2 |
LAMA2 |
2 |
1 |
Johan den Dunnen |
00102538 |
20477750-PatIV13 |
- |
5-generation family, branches with CAPN3 and LAMA2 variants |
M |
yes |
Tunisia |
- |
>31y |
- |
- |
- |
LGMD |
dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 1232; wheelchair bound 29y |
CAPN3, LAMA2 |
CAPN3 |
1 |
1 |
Nacim Louhichi |
00102539 |
20477750-PatIV14 |
- |
5-generation family, branches with CAPN3 and LAMA2 variants |
M |
yes |
Tunisia |
- |
>38y |
- |
- |
- |
LGMD |
dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 7; CPK: 337; wheelchair bound 33y |
CAPN3, LAMA2 |
CAPN3 |
1 |
1 |
Nacim Louhichi |
00102540 |
20477750-PatIV15 |
- |
5-generation family, branches with CAPN3 and LAMA2 variants |
M |
yes |
Tunisia |
- |
>27y |
- |
- |
- |
LGMD |
dystrophy, muscular, limb-girdle; no calve hypertrophy; functional grade 9; CPK: 452; wheelchair bound 24y |
CAPN3, LAMA2 |
CAPN3 |
1 |
1 |
Nacim Louhichi |
00102541 |
20477750-PatV4 |
ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 |
5-generation family, branches with CAPN3 and LAMA2 variants |
M |
yes |
Tunisia |
- |
>22y |
- |
- |
- |
LGMD |
calve hypertrophy; functional grade 3; CPK: 4062; wheelchair bound >22y |
LAMA2 |
LAMA2 |
1 |
1 |
Nacim Louhichi |
00102542 |
20477750-PatV5 |
- |
5-generation family, branches with CAPN3 and LAMA2 variants |
F |
yes |
Tunisia |
- |
>20y |
- |
- |
- |
LGMD |
dystrophy, muscular, limb-girdle; calve hypertrophy; functional grade 3; CPK: 2522; wheelchair bound >20y |
CAPN3, LAMA2 |
CAPN3 |
1 |
1 |
Nacim Louhichi |
00102543 |
20477750-PatV6 |
ESHG2010 Hadj Salem P12.119, PubMed: HadjSamen 2011 |
5-generation family, branches with CAPN3 and LAMA2 variants |
M |
yes |
Tunisia |
- |
>15y |
- |
- |
- |
LGMD |
calve hypertrophy; functional grade 4; CPK: 5675; wheelchair bound >15y |
CAPN3, LAMA2 |
CAPN3, LAMA2 |
2 |
1 |
Nacim Louhichi |
00103246 |
1409 |
PubMed: Reddy 2017 |
- |
F |
- |
United States |
white |
>02y |
- |
- |
- |
LGMD |
Elbow, knee and neck contractures |
- |
LAMA2 |
2 |
1 |
Jorge Oliveira |
00103268 |
Pat |
Chan 2014 |
- |
F |
no |
- |
- |
>13y |
- |
- |
- |
LGMD |
Elevated serum creatine phosphokinase (HP:0003236), deep cerebral white matter hyperdensities (HP:0030892), muscular dystrophy (HP:0003560), kyphosis (HP:0002808), limb-girdle muscle weakness (HP:0003325), demyelinating peripheral neuropathy (HP:0007108), Elbow flexion contracture (HP:0002987) |
LAMA2 |
LAMA2 |
3 |
1 |
Jorge Oliveira |
00103635 |
25663498-Pat6 |
PubMed: Løkken 2015 |
- |
M |
- |
Denmark |
- |
>69y |
- |
- |
- |
LGMD |
elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), Gowers sign (HP:0003391), myopathic features in muscle biopsy |
LAMA2 |
LAMA2 |
1 |
1 |
Jorge Oliveira |
00103636 |
25663498-Pat7 |
PubMed: Løkken 2015 |
- |
F |
- |
Denmark |
- |
>32y |
- |
- |
- |
LGMD |
elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), joint contracture (HP:0001371), Gowers sign (HP:0003391) |
LAMA2 |
LAMA2 |
2 |
1 |
Jorge Oliveira |
00103637 |
25663498-Pat8 |
PubMed: Løkken 2015 |
- |
M |
- |
Denmark |
- |
>54y |
- |
- |
- |
LGMD |
elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890), muscular dystrophy (HP:0003560), Gowers sign (HP:0003391) |
LAMA2 |
LAMA2 |
2 |
1 |
Jorge Oliveira |
00103974 |
28403181-Pat69 |
PubMed: Yu |
- |
M |
- |
(China) |
- |
>43y |
- |
- |
- |
LGMD |
Scapular winging (HP:0003691), distal muscle weakness (HP:0002460), skeletal muscle hypertrophy (HP:0003712) |
- |
LAMA2 |
1 |
1 |
Jorge Oliveira |
00103975 |
28403181-Pat92 |
PubMed: Yu |
- |
M |
- |
- |
- |
>07y |
- |
- |
- |
LGMD |
elevated serum creatine phosphokinase (HP:0003236), joint contracture (HP:0001371), distal muscle weakness (HP:0002460), neck flexor weakness (HP:0003722) |
LAMA2 |
LAMA2 |
1 |
1 |
Jorge Oliveira |
00108196 |
- |
PubMed: McNally, OMIM:var0003 |
- |
F |
- |
Italy |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
2 |
1 |
Johan den Dunnen |
00108204 |
- |
PubMed: Lo 2008, Lo WMS2005 L.P.1.02 |
- |
F |
- |
Australia |
white |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
1 |
Maria Chiotis |
00108211 |
- |
PubMed: Sugie 2005 |
grandfather from family |
M |
- |
Japan |
- |
>62y |
- |
- |
- |
LGMD |
CPK 1578 |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108212 |
- |
PubMed: Herrmann, OMIM:var0005 |
- |
F |
- |
Germany |
- |
- |
- |
- |
- |
LGMD |
phenotype with myalgia, muscle cramps; CPK 800 |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108218 |
- |
PubMed: Fulizio, OMIM:var0005 |
- |
M |
- |
Italy |
- |
- |
- |
- |
- |
LGMD |
CPK 600 |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108219 |
- |
- |
2 affected brothers |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
2 |
2 |
Ottie O'Brien |
00108226 |
- |
PubMed: de Paula, OMIM:var0003 |
- |
- |
- |
Brazil |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
2 |
Johan den Dunnen |
00108231 |
- |
PubMed: de Paula |
- |
- |
- |
Brazil |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108234 |
- |
PubMed: Minetti 1998, PubMed: Smythe, OMIM:var0002 |
3-generation family, 4 affecteds (2F, 2M); change studied by Smythe 2003 |
- |
- |
Italy |
- |
- |
- |
- |
- |
LGMD |
limb-girdle muscular dystrophy, type 1C |
CAV3 |
CAV3 |
1 |
4 |
Johan den Dunnen |
00108235 |
- |
PubMed: Matsuda |
- |
? |
- |
Japan |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108238 |
- |
PubMed: McNally, OMIM:var0004 |
unaffected mother and 2 siblings carrying same change |
F |
- |
- |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
4 |
Johan den Dunnen |
00108240 |
- |
- |
- |
- |
- |
Netherlands |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
1 |
Ieke Ginjaar |
00108244 |
- |
- |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
1 |
Ottie O'Brien |
00108245 |
- |
PubMed: Cagliani, OMIM:var0011 |
8 affecteds large family |
? |
- |
Italy |
- |
- |
- |
- |
- |
LGMD |
intrafamilial phenotypic heterogeneity, hCK/limb-girdle muscular dystrophy/RMD |
CAV3 |
CAV3 |
1 |
8 |
Johan den Dunnen |
00108247 |
- |
Herrmann WMS2004, PubMed: Aboumousa 2008 |
- |
M |
- |
United Kingdom (Great Britain) |
- |
>8y |
- |
- |
- |
LGMD |
limb-girdle muscular dystrophy-1C; RMD; rippling, PIRCs, weakness proximal upper & lower limbs, mild hypertrophy, no pain, EMG myopathic features, biopsy normal; CPK 1340 |
CAV3 |
CAV3 |
1 |
1 |
Ottie O'Brien |
00108248 |
- |
PubMed: Minetti 1998, OMIM:var0001 |
3-generation family, 4 affecteds (3F, 1M) |
- |
- |
Italy |
- |
- |
- |
- |
- |
LGMD |
limb-girdle muscular dystrophy, type 1C, muscle cramping and calf hypertrophy |
CAV3 |
CAV3 |
1 |
4 |
Johan den Dunnen |
00108250 |
11251997-FamPat3 |
PubMed: de Paula 2001, PubMed: de Paula 2003 |
3-generation family, 1 affected, unaffected heterozygous carrier son/daughter |
F |
yes |
Brazil |
- |
- |
- |
- |
- |
LGMD |
onset teenager; 18y-more rapid progression; proximal weakness, very enlarged calves, serum CK increased 8-11x; mild limb-girdle muscular dystrophy; motor ability walk |
CAV3, FKRP |
CAV3, FKRP |
2 |
3 |
Johan den Dunnen |
00108257 |
- |
PubMed: Figarella-Branger, OMIM:var0007 |
- |
F |
- |
- |
- |
>71y |
- |
- |
- |
LGMD |
myalgia, reduced muscle strength |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108261 |
- |
PubMed: Fee, PubMed: So |
16 affecteds large family |
- |
- |
United States |
- |
- |
- |
- |
- |
LGMD |
variable phenotype (asymptomatic 86y female), limb-girdle muscular dystrophy-1C/RMD |
CAV3 |
CAV3 |
1 |
16 |
Johan den Dunnen |
00108263 |
- |
- |
relative of 18583131.H3 |
F |
- |
United Kingdom (Great Britain) |
- |
>22y |
- |
- |
- |
LGMD |
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 |
CAV3 |
CAV3 |
2 |
1 |
Ottie O'Brien |
00108264 |
- |
PubMed: Roberts 2006, PubMed: Lo 2008 |
- |
F |
- |
Australia |
white |
- |
- |
- |
- |
LGMD |
CPK 1251 |
CAV3 |
CAV3 |
1 |
1 |
Maria Chiotis |
00108265 |
- |
PubMed: Ullrich 2011 |
6 generation family, 14 affecteds |
- |
- |
Germany |
- |
- |
- |
- |
- |
LGMD |
variable phenotype, limb-girdle muscular dystrophy-1C/RMD/MPD |
CAV3 |
CAV3 |
1 |
14 |
Johan den Dunnen |
00108269 |
- |
PubMed: Sugie 2005 |
mother and son |
M;F |
- |
Japan |
- |
- |
- |
- |
- |
LGMD |
died >6y;>33y; CPK 3430;1700, age onset 3y;? |
CAV3 |
CAV3 |
1 |
2 |
Johan den Dunnen |
00108271 |
- |
PubMed: Ullrich 2011 |
- |
F |
- |
Germany |
- |
- |
- |
- |
- |
LGMD |
asymmetric muscle weakness; CPK 830, not wheelchair bound |
CAV3 |
CAV3 |
2 |
1 |
Johan den Dunnen |
00108272 |
- |
PubMed: Sugie 2005 |
mother from family |
F |
- |
Japan |
- |
>30y |
- |
- |
- |
LGMD |
CPK raised |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108273 |
- |
PubMed: Sugie 2005 |
son from family |
M |
- |
Japan |
- |
>3y |
- |
- |
- |
LGMD |
CPK raised |
CAV3 |
CAV3 |
1 |
1 |
Johan den Dunnen |
00108274 |
- |
- |
- |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
LGMD |
- |
CAV3 |
CAV3 |
1 |
4 |
Ottie O'Brien |