Disease #05126 (LGMD (dystrophy, muscular, limb-girdle (LGMD)))

Official abbreviation LGMD
Name dystrophy, muscular, limb-girdle (LGMD)
OMIM ID -
Inheritance -
Individuals reported having this disease 7322
Phenotype entries for this disease 3478
Associated with 1 gene TRAPPC11
Associated tissues -
Disease features -
Remarks -


Individuals

7322 entries on 74 pages. Showing entries 1 - 100.
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00057985 - - - M - Canada French Canadian - 0 - - LGMD adult-onset LGMD; 61y wheelchair bound TTN TTN 1 1 Tom Winder
00058411 - PubMed: Udd 2005, PubMed: Evila 2014 - ? no Finland - - 0 - - LGMD - TTN TTN 2 1 Claire Chauveau
00058415 - PubMed: Evil‰ 2014 - F no Finland - - 0 - - LGMD - TTN TTN 2 1 Claire Chauveau
00058430 - PubMed: Udd 2005, PubMed: Evila 2014 - ? no Finland - - 0 - - LGMD childhood-onsset TTN TTN 2 1 Johan den Dunnen
00065234 - Fichna ESHG2016 P10.20 3-generation family, 2 affecteds (2M) M no Poland - - 0 - - 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 - - - - - - 0 - - 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 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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 ANO5 ANO5 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 ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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 ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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) ANO5 ANO5 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 ANO5 ANO5 2 1 Johan den Dunnen
00078780 - - - - - United States - - 0 - - LGMD - ANO5 ANO5 2 1 Tom Winder
00078791 - Bolduc ASHG2011 A114 - - - - - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - 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 - - 0 - - LGMD - ANO5 ANO5 2 1 Tom Winder
00078875 - - - M - Canada - - 0 - - LGMD - ANO5 ANO5 2 1 Tom Winder
00078876 Pat9 PubMed: Punetha 2016 - M yes ? (unknown) - - 0 - - 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 ? ? (unknown) - - 0 - - 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) Caucasian >7y 0 - - 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) Caucasian >11y 0 - - 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 0 - - 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 - - - - 0 - - 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 - - - - 0 - - 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 - - - - 0 - - LGMD CPK: 405; walk LAMA2 LAMA2 2 1 Johan den Dunnen
00102522 21953594-Pat4 PubMed: Gavassini 2011 - M - - - - 0 - - LGMD CPK: 1053; no mental retardation; walk LAMA2 LAMA2 2 1 Johan den Dunnen
00102523 21953594-Pat5 PubMed: Gavassini 2011 - M - - - - 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 Caucasian >02y 0 - - LGMD Elbow, knee and neck contractures - LAMA2 2 1 Jorge Oliveira
00103266 26304763-Proband PubMed: Ding 2016 1-generation family, 2 affecteds (1M, 1F) F no (China) - >08y 0 - - LGMD Elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890) - LAMA2 2 2 Jorge Oliveira
00103267 26304763-Proband's_sister PubMed: Ding 2016 - F no (China) - - 0 - - LGMD Delayed gross motor development (HP:0002194), elevated serum creatine phosphokinase (HP:0003236), hyperintensity of cerebral white matter on MRI (HP:0030890) - LAMA2 2 1 Jorge Oliveira
00103268 26304763-Pat PubMed: Chan 2014 - F no - - >13y 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 - - 0 - - LGMD - CAV3 CAV3 2 1 Johan den Dunnen
00108204 - PubMed: Lo 2008, Lo WMS2005 L.P.1.02 - F - Australia Caucasian - 0 - - LGMD - CAV3 CAV3 1 1 Maria Chiotis
00108211 - PubMed: Sugie 2005 grandfather from family M - Japan - >62y 0 - - LGMD CPK 1578 CAV3 CAV3 1 1 Johan den Dunnen
00108212 - PubMed: Herrmann, OMIM:var0005 - F - Germany - - 0 - - LGMD phenotype with myalgia, muscle cramps; CPK 800 CAV3 CAV3 1 1 Johan den Dunnen
00108218 - PubMed: Fulizio, OMIM:var0005 - M - Italy - - 0 - - LGMD CPK 600 CAV3 CAV3 1 1 Johan den Dunnen
00108219 - - 2 affected brothers - - United Kingdom (Great Britain) - - 0 - - LGMD - CAV3 CAV3 2 2 Ottie O'Brien
00108226 - PubMed: de Paula, OMIM:var0003 - - - Brazil - - 0 - - LGMD - CAV3 CAV3 1 2 Johan den Dunnen
00108231 - PubMed: de Paula - - - Brazil - - 0 - - 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 - - 0 - - LGMD limb-girdle muscular dystrophy, type 1C CAV3 CAV3 1 4 Johan den Dunnen
00108235 - PubMed: Matsuda - ? - Japan - - 0 - - LGMD - CAV3 CAV3 1 1 Johan den Dunnen
00108238 - PubMed: McNally, OMIM:var0004 unaffected mother and 2 siblings carrying same change F - - - - 0 - - LGMD - CAV3 CAV3 1 4 Johan den Dunnen
00108240 - - - - - Netherlands - - 0 - - LGMD - CAV3 CAV3 1 1 Ieke Ginjaar
00108244 - - - - - United Kingdom (Great Britain) - - 0 - - LGMD - CAV3 CAV3 1 1 Ottie O'Brien
00108245 - PubMed: Cagliani, OMIM:var0011 8 affecteds large family ? - Italy - - 0 - - 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 0 - - 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 - - 0 - - 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 - - 0 - - 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 0 - - LGMD myalgia, reduced muscle strength CAV3 CAV3 1 1 Johan den Dunnen
00108261 - PubMed: Fee, PubMed: So 16 affecteds large family - - United States - - 0 - - 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 0 - - 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 Caucasian - 0 - - LGMD CPK 1251 CAV3 CAV3 1 1 Maria Chiotis
00108265 - PubMed: Ullrich 2011 6 generation family, 14 affecteds - - Germany - - 0 - - 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 - - 0 - - LGMD died >6y;>33y; CPK 3430;1700, age onset 3y;? CAV3 CAV3 1 2 Johan den Dunnen
00108271 - PubMed: Ullrich 2011 - F - Germany - - 0 - - 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 0 - - LGMD CPK raised CAV3 CAV3 1 1 Johan den Dunnen
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