All individuals with variants in gene PLEC

213 entries on 3 pages. Showing entries 1 - 100.
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Population     

Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

Variants     

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00050440 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? severe muscular hypotonia, myopathy 2 2 Johan den Dunnen
00119121 - - - - - Japan - - - - - epidermolysis bullosa - 2 1 Ken Natsuga
00146108 Pat PubMed: Zhong 2017 - M - China - - - - - MD - 2 1 Johan den Dunnen
00174785 Pat19;PatA2 PubMed: Fichna 2018, PubMed: Macias 2021 - M - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 7x; waddling gait from adolescence; myalgia and progression of lower limb weakness after upper respiratory tract infection in 8th decade; cardiac arrhythmias; diffuse muscle atrophy, hyperlordosis; waddling gait 1 1 Johan den Dunnen
00174800 Pat130a;A11 PubMed: Fichna 2018, PubMed: Macias 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Poland - - - - - LGMD onset overt symptoms adolescence; CPK raised 27x; limb-girdle weakness; generalized muscle atrophy, scapular winging; ambulation preserved 1 1 Johan den Dunnen
00207952 - - - F - Germany - - - - - - - 1 1 Andreas Laner
00208808 - - - M - Germany - - - - - - HP:0012638 (Abnormality of nervous system physiology); HP:0100543 (Cognitive impairment); HP:0011446 (Abnormality of higher mental function); HP:0001288 (Gait disturbance); HP:0001324 (Muscle weakness) 1 1 Andreas Laner
00208912 - - - F - Germany - - - - - - HP:0011804 (Abnormality of muscle physiology); HP:0001324 (Muscle weakness); HP:0003198 (Myopathy) 1 1 Andreas Laner
00210178 - - - M - Germany - - - - - - HP:0030319 (Weakness of facial musculature); HP:0012373 (Abnormal eye physiology); HP:0000301 (Abnormality of facial musculature); HP:0000508 (Ptosis) 1 1 Andreas Laner
00213158 21109228-Fam1.V1 PubMed: Gundesli 2010 6-generation family, 4 affecteds F - Turkey - - - - - LGMD progressive muscle weakness, deceased 1 2 Johan den Dunnen
00213159 21109228-Fam1.V2 PubMed: Gundesli 2010 6-generation family, 4 affecteds F - Turkey - - - - - LGMD progressive muscle weakness, deceased 1 2 Johan den Dunnen
00213160 21109228-Fam1.V3 PubMed: Gundesli 2010 6-generation family, 4 affecteds M - Turkey - - - - - LGMD early-onset limb-girdle muscle symptoms; 36y-bedridden, near-total muscle atrophy, evident multiple contractures; wheelchair bound 24y 1 2 Johan den Dunnen
00213161 21109228-Fam1.V1.1 PubMed: Gundesli 2010 6-generation family, 4 affecteds M - Turkey - - - - - LGMD 3y-delayed independent walking, later additional signs of weakness (occasional falls, difficulty climbing stairs); 14y-progressive weakness; 19y-prolonged Gower's sign, generalized muscle weakness, unable to jump, walked with increased lumbar lordosis, no muscle hypertrophy, ECG normal, EMG myopathic; muscle biopsy dystrophic features (variation fiber size, internal nuclei, scattered basophilic/few necrotic fibers, mild endomysial fibrosis; CPK 5584; no intellectual disability 1 2 Johan den Dunnen
00213162 21109228-Fam2.P20 PubMed: Gundesli 2010 paternal aunt with LGMD M - Turkey - - - - - LGMD 4y-lordotic gait, Gower's sign, normal mental/fine-motor developmental milestones, muscle biopsy dystrophic changes; CPK 4159 1 2 Johan den Dunnen
00213163 21109228-Fam3.P47 PubMed: Gundesli 2010 consanguineous parents, 2nd cousins, M yes Turkey - - - - - LGMD 5y-weakness early childhood, difficulty climbing stairs, behind peers in running, Gower's sign, muslce not hypertrophic, muscle biopsy dystrophic changes; walk-2.5y; CPK 3704 1 2 Johan den Dunnen
00213164 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213165 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213166 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213167 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213168 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213169 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213170 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213171 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213172 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213173 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213174 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213175 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213176 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213177 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213178 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213179 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213180 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213181 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213182 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213183 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213184 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213185 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213186 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213187 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213188 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213189 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213190 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213191 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213192 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213193 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213194 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213195 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213196 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213197 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213198 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213199 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213200 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213201 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213202 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213203 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213204 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213205 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213206 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213207 - PubMed: Fattahi 2015 - F no Iran - - - - - LGMD ptosis, ophthalmoparesis 2 2 Zohreh Fattahi
00219447 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219467 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219514 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219522 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219539 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219542 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219546 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219547 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219549 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219551 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219555 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219557 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219601 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219603 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219605 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219609 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219626 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219631 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219632 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00219635 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219643 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219647 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219653 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219659 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219660 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219662 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219672 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219673 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219687 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00219746 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - CRS, LGMD - 2 1 Madhuri Hegde
00219789 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220088 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220127 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 4 1 Madhuri Hegde
00220162 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220167 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 2 1 Madhuri Hegde
00220178 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220180 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220182 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220184 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220198 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
00220200 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - LGMD - 1 1 Madhuri Hegde
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