All individuals with variants in gene MYOT

114 entries on 2 pages. Showing entries 1 - 100.
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Disease     

Phenotype details     

Variants     

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00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00207796 - - - M - Germany - - 0 - - - HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia) 1 1 Andreas Laner
00208036 ? PubMed: Bar 2007 - - - France Africa (N) - 0 - - MYOP progressive cardiac and skeletal myopathy 1 1 Johan den Dunnen
00210277 - PubMed: Godley 1999 - - - Italy - - 0 - - Healthy/Control - 1 7 Johan den Dunnen
00210278 - PubMed: Olive 2005 - - - Spain - - 0 - - MFM - 1 1 Johan den Dunnen
00210279 - PubMed: Goebel 1974 21 affecteds and 5 at-risk large 5-generation family; genome scan 5q31-linked D5S2117 - - United States - - 0 - - MFM phenotype called SBM (spheroid body myopathy) 1 21 Johan den Dunnen
00210280 - - - - - - - - 0 - - Healthy/Control - 1 6 Johan den Dunnen
00210281 - - - - - - - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210282 Pat38 PubMed: Godley 1999 MDL/AML patient - - Italy - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210283 - PubMed: Hauser 2002, {OMIM604103:0002} 4 affecteds 3-generation family - - Argentina - - 0 - - LGMD raised CPK level (HP:0003236) 5x-15x 1 4 Johan den Dunnen
00210284 Pat6 PubMed: Selcen 2004, {OMIM604103:0002} affected son and brother F - United States - >81y 0 - - MFM cardiomyopathy; no raised CPK level (-HP:0003236) normal 1 2 Johan den Dunnen
00210285 - PubMed: Olive 2005 3 unrelated sporadic patients - - Spain - - 0 - - MFM - 1 3 Johan den Dunnen
00210286 Fam1 PubMed: Olive 2005 8 affected 4 generation family - - Spain - - 0 - - MFM raised CPK level (HP:0003236) 2x 1 8 Johan den Dunnen
00210287 - PubMed: Hauser 2000, {OMIM604103:0001} large north American family (German descent) - - United States white - 0 - - LGMD - 1 1 Johan den Dunnen
00210288 Pat1 PubMed: Selcen 2004, {OMIM604103:0003} - F - United States - >53y 0 - - MFM raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210289 Pat2 PubMed: Selcen 2004, {OMIM604103:0003} - M - United States - >61y 0 - - MFM raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210290 Pat3 PubMed: Selcen 2004, {OMIM604103:0003} - M - United States - >76y 0 - - MFM cardiomyopathy; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210291 - PubMed: Olive 2005 - - - Spain - - 0 - - MFM - 1 1 Johan den Dunnen
00210292 Fam2 PubMed: Olive 2005 6 affecteds 5 generation family F;M - Spain - - 0 - - MFM cardiomyopathy 1 6 Johan den Dunnen
00210293 Fam3 PubMed: Olive 2005 2 brothers M - Spain - >81y 0 - - MFM no raised CPK level (-HP:0003236) normal / ? 1 2 Johan den Dunnen
00210294 Pat4 PubMed: Selcen 2004, {OMIM604103:0004} - M - United States - >80y 0 - - MFM cardiomyopathy; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210295 - PubMed: Olive 2005 - - - Spain - - 0 - - MFM - 1 1 Johan den Dunnen
00210296 - PubMed: Olive 2005 - - - Spain - - 0 - - MFM - 1 1 Johan den Dunnen
00210297 Pat32 PubMed: Godley 1999 MDL/AML patient - - Italy - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210298 Pat5 PubMed: Selcen 2004, {OMIM604103:0005} - M - United States - >87y 0 - - MFM raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210299 - PubMed: Olive 2005 found in relative of MFM patient - - Spain - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210300 - - - - - - - - 0 - - Healthy/Control - 1 6 Johan den Dunnen
00210301 17698502.II3 PubMed: Berciano 2008 uncle of 17698502.III2 M - Spain - >76y 0 - - MFM late-onset, distal lower-limb weakness; thigh and leg muscle atrophy, gait only with support combining bilateral steppage and waddling; CPK level 1.5x 1 1 Johan den Dunnen
00210302 17698502.III2 PubMed: Berciano 2008 5 generation family; 5 affected (F, 4M), 6 asymptomatic heterozygous carriers ((4F, 2M); niece of 17698502.II3 F - Spain - >61y 0 - - MFM late-onset, distal lower-limb weakness; electromyography deltoid, quadriceps, tibialis anterior muscles myopathic pattern; CPK level 1.5x 1 11 Johan den Dunnen
00210303 - PubMed: Berciano 2008 5 generation family, 3 affecteds - - Spain - - 0 - - MFM late-onset, distal lower-limb weakness 1 3 Johan den Dunnen
00210304 - PubMed: Berciano 2008 5 generation family, 6 asymptomatic carriers (63y, 50y, 48y, 38y, 27y, 21y) - - - - - 0 - - Healthy/Control asymptomatic 1 6 Johan den Dunnen
00210305 - PubMed: Olive 2005 - - - Spain - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210306 - PubMed: Foroud 2005, {OMIM604103:0006} - - - United States - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210308 mouse PubMed: Garvey 2006 - - - - - - 0 - - LGMD progressive myofibrillar pathology, Z-disc streaming, excess myofibrillar vacuolization, plaque-like myofibrillar aggregation (progressively larger, more numerous with age; extensor digitorum longus muscle exhibits significantly reduced maximum specific isometric force (soleus/diaphragm muscles spared) 1 1 Johan den Dunnen
00210309 - PubMed: Olive 2005 - - - Spain - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210310 19590214-PatA PubMed: McNeill 2009 daugther of 19590214-PatAf F - (United Kingdom (Great Britain)) - >43y 0 - - MFM mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210311 19590214-PatAf PubMed: McNeill 2009 father of 19590214-PatA M - (United Kingdom (Great Britain)) - - 0 - - MFM distal myopathy 1 1 Johan den Dunnen
00210312 19590214-PatB PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >57y 0 - - MFM 55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes; CPK level 1.5x 1 1 Johan den Dunnen
00210313 19590214-PatC PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >59y 0 - - MFM mild proximal arm/leg weakness, Achilles contractures, weakness long finger flexors; CPK level 1.5x 1 1 Johan den Dunnen
00210314 19590214-PatD PubMed: McNeill 2009 3-generation family, affected male M - (United Kingdom (Great Britain)) - >68y 0 - - MFM bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal; raised CPK level (HP:0003236) 4x 1 4 Johan den Dunnen
00210315 19590214-PatDb PubMed: McNeill 2009 brother of 19590214-PatD M - (United Kingdom (Great Britain)) - - 0 - - MFM distal arm/leg weakness 1 1 Johan den Dunnen
00210316 19590214-PatDc1 PubMed: McNeill 2009 child of 19590214-PatD - - (United Kingdom (Great Britain)) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210317 19590214-PatDc2 PubMed: McNeill 2009 child of 19590214-PatD - - (United Kingdom (Great Britain)) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00210318 19590214-PatE PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >81y 0 - - MFM 81y-proximal weakness arms/legs (MRC 4/5), absent dorsiflexion both feet, weak plantarflexion feet (MRC 2/5), EMG mixed myopathic/neuropathic changes; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210319 19590214-PatF PubMed: McNeill 2009 - M - (United Kingdom (Great Britain)) - >66y 0 - - MFM distal lower limb weakness, ankle dorsiflexion/plantarflexion (MRC 1/5), mild proximal weakness, knee flexion, hip adduction (MRC 3/5), ECG normal, PFTs suggested diaphragmatic weakness with forced vital capacity 64% of predicted (sitting)/ 60% (lying); raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210320 19590214-PatFf PubMed: McNeill 2009 father of 19590214-PatF M - (United Kingdom (Great Britain)) - - 0 - - MFM late-onset muscle weakness, wheelchair bound 64y 1 1 Johan den Dunnen
00210321 19590214-PatG PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >67y 0 - - MFM 67y-mild weakness wrist extension (MRC 4/5)/elbow flexion (MRC 4/5), marked weakness foot dorsiflexion/plantarflexion bilaterally (MRC 2ñ3/5)ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210322 19590214-PatH PubMed: McNeill 2009 mother difficulty walking mid-60s M - (United Kingdom (Great Britain)) - >85y 0 - - MFM 85y-weak wrist extension (MRC 4/5)/foot dorsiflexion (MRC 1/5), ECG/PFTs normal, EMG mixed myopathic/neuropathic picture; CPK level 1.5-2x 1 1 Johan den Dunnen
00210323 19458539-Pat1 PubMed: Shalaby 2009 - F - Japan - - 0 - - LGMD progressive muscle weakness, 50y-difficulty walk long distances, not able to stand up/climb stairs without support, 57y-proximal dominant muscle weakness, esp. neck flexors, iliopsoas, hamstring, quadriceps muscles, facial muscle weakness, waddling gait, decreased deep tendon reflexes 1 1 Johan den Dunnen
00210324 19458539-Pat1f PubMed: Shalaby 2009 father of 19458539-Pat1 M - Japan - - 0 - - LGMD - 1 1 Johan den Dunnen
00210325 19458539-Pat1s PubMed: Shalaby 2009 elder sister of 19458539-Pat1 F - Japan - - 0 - - LGMD original diagnosis sporadic inclusion body myositis; raised CPK level (HP:0003236) >2x 1 1 Johan den Dunnen
00210326 19027924-Pat1 PubMed: Gamez 2009 - M - Spain - - 0 - - MFM generalized muscle pseudo-hypertrophy, stiffness; 53y-slowly progressive gait difficulty, muscule weakness lower limbs/less upper extremities, muscle pain, stiffness when walking, unable to walk >20m without rest, severe difficulty climbing/descending stairs, rising from chair, getting in/out vehicles; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210327 19027924-Pat1f PubMed: Gamez 2009 father of 19027924-Pat1 M - Spain - 71y 0 - - MFM gait disorder similar to son 1 1 Johan den Dunnen
00210328 19027924-Pat1b PubMed: Gamez 2009 brother of 19027924-Pat1 M - Spain - - 0 - - MFM 52y-acute myocardial infarction; 55y-Herculean appearance, normal muscle strength/nerve conduction, EMG myopathicdeltoid, vastus medialis, rectus femoris, tibialis anterior muscles without complex repetitive discharges. 1 1 Johan den Dunnen
00210329 19027924-Pat1a PubMed: Gamez 2009 aunt of 19027924-Pat1 F - Spain - - 0 - - MFM EMG myopathy 1 1 Johan den Dunnen
00210330 18653338-Pat18 PubMed: Claeys 2008 - M - - - >71y 0 - - MFM see paper; … 2 1 Johan den Dunnen
00210331 18653338-Pat19 PubMed: Claeys 2008 - M - - - >62y 0 - - MFM see paper; … 2 1 Johan den Dunnen
00210332 16793270-Fam see also PubMed: Penisson-Besniers 1998 3-generation family, 4 affecteds, 2 asymptomatic carriers - - France - - 0 - - MFM CPK level 1-2x 1 6 Johan den Dunnen
00210333 - - - M - United States white - 0 - - LGMD proximal and distal weakenss (LE>UE); facial weakness; raised CPK level (HP:0003236) 1 1 Tom Winder
00210334 - - - - - United States - - 0 - - LGMD limb girdle weakness 1 1 Tom Winder
00210335 Emory-? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00210336 Emory-? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00210337 Emory-? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00210338 Emory-? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00210339 Emory-? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00210340 Emory-? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00210341 Emory-? - - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00210370 21336781 PubMed: Reilich 2011 - F - Turkey - - 0 - - LGMD see paper; ... 1 1 Johan den Dunnen
00219534 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219606 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219657 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00219697 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219699 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219708 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219780 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219795 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219806 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219876 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219971 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219986 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220060 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00220143 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220147 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220165 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220223 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220270 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220305 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220360 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220481 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00220845 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220939 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00220949 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221194 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221386 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221399 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221438 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221478 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221546 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221667 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00221707 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
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