All individuals with variants in gene TPM3

76 entries on 1 page. Showing entries 1 - 76.
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00037257 - - - - - Germany - - - - - ? suspected Nemaline Myopathie, hypotonia, developmental delay 1 1 Andreas Laner
00037258 - - - - - Germany - - - - - ? suspected Cap-Myopathie, Spektrum der Nemalinen Myopathie 1 1 Andreas Laner
00037259 - - - - - Germany - - - - - ? suspected Nemaline Myopathie, hypotonia, developmental delay 1 1 Andreas Laner
00213547 - PubMed: Zhang 2010 - M - - - - - - - ? 29y-multiple episodes abdominal pain, CT-scan large left upper quadrant abdominal mass associated with liver lesions 1 1 Johan den Dunnen
00213548 - PubMed: Li 2011 - - - - - - - - - ? - 2 1 Johan den Dunnen
00213549 - PubMed: Laing 1995 large family - - Australia - - - - - NEM childhood onset 1 1 Kristen Nowak
00213550 - PubMed: Tan 1999 - M - Iran - - - - - NEM - 2 1 Johan den Dunnen
00213551 - PubMed: Tan 1999 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00213552 - PubMed: Ottenheijm 2011 - - - United States - - - - - NEM - 2 2 Johan den Dunnen
00213553 - - - F yes United States Hispanic - - - - MYOP - 2 1 Tom Winder
00213554 - PubMed: Ottenheijm 2011 consanguinity 3 generations removed, unaffected carrier relatives F yes (United States) Mexico >9y6m - - - CMYO4A;CFTD severe; LE initially weaker than UE; 2.3y-marked pectus excavatum; 9.5y-facial weakness, significant dysarthria, scoliosis, severe weakness of upper and lower limbs; 2.5y-ventilator dependent, G-tube; never walked; wheelchair bound allways; no intellectual disability 2 1 Alan Beggs
00213555 - PubMed: Durling 2002 - F - Germany - - - - - NEM - 1 1 Johan den Dunnen
00213556 - PubMed: Pennisson-Besnier 2007, OMIM:var0005 4 generation family; 8 affecteds - - - - - - - - NEM mild, classical form 1 8 Johan den Dunnen
00213557 - - - F - United Kingdom (Great Britain) - - - - - NEM static myopathy with respitory failure, facial weakness; CPK normal 1 1 Tom Winder
00213558 - - - F - United States white - - - - CMYO4A;CFTD - 1 1 Tom Winder
00213559 - - - F - United States - - - - - NEM - 1 1 Tom Winder
00213560 - PubMed: Lawlor 2009 - F - United Kingdom (Great Britain) - - - - - CMYO4A;CFTD mild; 18y-myopathic facies, scoliosis, fatigue, difficulty with weight gain, finger/heel cord contractures, mild to moderate weakness of axial/proximal muscles; neck flexors and axial muscles particularly weak; 12y-nocturnal bipap; occasional difficulty chewing and swallowing; walk-18m; able to run; no intellectual disability 1 1 Alan Beggs
00213561 - PubMed: Ottenheijm 2011 - M - United States - 66y - - - NEM mild; requiring occasional nocturnal oxygen; retrospectively recalls difficulty keeping up with peers in childhood; 66y-mild facial weakness, dysarthria, mild scoliosis/hyperlordosis, hypothyroidism, head drop, mild weakness of axial, some proximal/some distal muscles; occasional difficulty chewing and swallowing.; walked until death, used wheelchair for long distances; 66y-died from thyroid cancer; walk; wheelchair bound long distance; no intellectual disability 1 1 Alan Beggs
00213562 18300303.c PubMed: Clarke 2008 3 generation family, 4 affecteds - - Martinique - - - - - CMYO4A;CFTD - 1 4 Johan den Dunnen
00213563 19553118.P1 (PMID19553118:dePaula 2009} parents unaffected M - France white >42y - - - MYOP hypotonia first months, motor milestones delayed; 7y-flat feet in valgus with external rotation, long narrow face, high arched palate, mild lumbar hyperlordosis, no amyotrophy, slight distal weakness lower limbs (anterior compartment), tendon reflexes abolished; CPK normal; FVC 0.74 42y 1 1 Johan den Dunnen
00213564 20951040-Cas1 PubMed: Munot 2010 - F no United Kingdom (Great Britain) - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213565 18300303.F4 PubMed: Clarke 2008 3 generation family, 4 affecteds - - - - - - - - CMYO4A;CFTD - 1 4 Johan den Dunnen
00213566 18300303.F3 PubMed: Clarke 2008 - - - - - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213567 - - - - - Canada French-Canadian - - - - MYOP fiber type disproportion 1 1 Tom Winder
00213568 - - - F - United States - - - - - MYOP - 1 1 Tom Winder
00213569 - - - F - United States - - - - - CMYO4A;CFTD hypotonia, axial weakness, FTT, muscle biopsy shows CFTD 1 1 Tom Winder
00213570 - - - F - United States - - - - - MYOP - 1 1 Tom Winder
00213571 18300303.F5 PubMed: Clarke 2008 - - - - - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213572 19487656-Pat1 PubMed: Ohlsson 2009, OMIM:var0009 heatly, unaffectd parents and sibling F no - - >38y - - - MYOP somewhat delayed motor milestones; 5y-mild motor difficulties, could not keep up with peers, could not run; 18y-muscle biopsy diagnosis congenital myopathy, nemaline rods not identified, EMG myopathic pattern; 21y-hospitalised with pneumonia, tracheostomized, mechanical ventilation initiated, kyphoscoliosis, hypotonia, generalized muscle atrophy, mild muscle weakness, able to sit, walk unsupported, elongated face, high-arched palate, no cardiac involvement; 38y-dependent on mechanical ventilation night; walk, not run; wheelchair bound >38y 1 1 Johan den Dunnen
00213573 20179953-PatTPM3-1 PubMed: Tominaga 2010 - - - Japan - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213574 20179953-PatTPM3-2 PubMed: Tominaga 2010 - - - Japan - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213575 20554445-Pat1 PubMed: Waddle 2010 - M - Australia - >37y - - - MYOP neonatal truncal hypotonia, slowly improved during childhood; 18m-long myopathic face, open triangular mouth, high-arched palate, narrow chest mainly diaphragmatic breathing, marked generalised hypotonia, absent deep tendon reflexes, exaggerated lumbar lordosis on standing; childhood-stable generalised weakness, difficulty running could not jump, weakness prominent in proximal lower limb muscles, ankle dorsiflexors, neck movements, mild scoliosis; 17y-echocardiogram normal cardiac function, borderline aortic dilatation at the aortic sinuses; 20y-pulmonary vital capacity 37%; sleep study severe hypoventilation, non-invasive nocturnal ventilation was commenced; crawl-10m, walk-15m 1 1 Johan den Dunnen
00213576 18300303.F2 PubMed: Clarke 2008 - - - - - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213577 18300303.F1 PubMed: Clarke 2008 - - - - - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213578 18382475.F1 PubMed: Lehtokari 2008, OMIM:var0006 2 affected brothers; parents from same village - - Turkey - - - - - NEM born with contractures knees and ankles, delayed motor development 2 2 Johan den Dunnen
00213579 18382475.F2a PubMed: Lehtokari 2008, OMIM:var0006 sister of 18382475.F2b ; 2nd cousin parents F - Turkey - - - - - NEM muscle hypotonia (1m), facial weakness, lack head control,lax distal joints, scoliosis (1y), delayed motor milestones 2 1 Johan den Dunnen
00213580 18382475.F2b PubMed: Lehtokari 2008, OMIM:var0006 brother of 18382475.F2a ; 2nd cousin parents M - Turkey - - - - - NEM muscle hypotonia (1m), facial weakness, lack head control,lax distal joints, scoliosis (1y), delayed motor milestones 2 1 Johan den Dunnen
00213581 - PubMed: Lawlor 2009 - M - (United States) - - - - - CMYO4A;CFTD history of cryptorchidism, PDD/ADHD and verbal learning disorder; 5.5y-facial weakness, but relatively normal tone and strength; able to run, current ability unknown; walk-18m; run 1 1 Alan Beggs
00213582 - PubMed: Lawlor 2009 - F - United States - - - - - CMYO4A;CFTD retrospectively recalls: always slow runner, poor strength, history of myalgia with exertion and distal parathesias; 33y-remature ventricular contractions; 39y-ptosis, myopathic facies, diffuse mild weakness; occasional difficulty with chewing and swallowing; slow feeder, no known respiratory issues; walk-39y; no intellectual disability 1 1 Alan Beggs
00213583 - PubMed: Ottenheijm 2011 - F - (United States) - - - - - CMYO4A;CFTD moderate; 8.75y-facial weakness, ptosis, dysarthria, diffuse muscle weakness (especially axial), and lordosis; 8y-nocturnal bi-pap; walk-5y; never run; no intellectual disability 1 1 Alan Beggs
00213584 - PubMed: Ottenheijm 2011 - F - (United States) - - - - - CMYO4A;CFTD poor weight gain/suck as infant; 14m-dysarthria, no head/neck control, not ambulatory, moderate diffuse weakness 1 1 Alan Beggs
00213585 20012312-Cas1 PubMed: Kiphuth 2010 sister died from sudden cardiac arrest 27y, 5 other siblings lack any neuromuscular symptoms F no Germany - >57y - - - NEM 40y-respiratory problems exertional/nocturnal; 54y-pulmonological workup hypercapnic respiratory failure, severe restriction vital capacity, moderate restriction total lung capacity; nocturnal continuous positive airway pressure ventilation initiated; cardiological investigations normal; 54y-muscle biopsy myopathic features, type 1-fiber predominance; 57y-long face, mild facial weakness, high arched palate, slender build, generalized muscle weakness/wasting accentuated in proximal muscle groups, winging of both scapulae and moderate thoracic scoliosis; no swallowing difficulties; CPK normal 1 1 Johan den Dunnen
00213586 20012312-Cas2 PubMed: Kiphuth 2010 daugther of 20012312-Cas1 F no Germany - - - - - NEM 6m-muscle biopsy no clearcut myopathological diagnosis, no nemaline rods, MRI-Whole body muscle MRI mirrored findings mother, much less pronounced 1 1 Johan den Dunnen
00213587 20951040-Cas2 PubMed: Munot 2010 - M no United Kingdom (Great Britain) - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00213588 - - - M - United States - - - - - CMYO4A;CFTD - 1 1 Tom Winder
00213589 - - - F - United States - - - - - CMYO4A;CFTD - 1 1 Tom Winder
00213590 - - - M - Sweden white - - - - NEM - 1 1 Tom Winder
00213591 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213592 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213593 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00213594 Fam3 (3363) - - M - - - - - - - NEM muscle soreness, no facial weakness, asymmetry, lower limbs weaker than upper, progression, proximal and distal weakness ; wheelchair bound >70y 1 1 Minttu Marttila
00213595 Fam5 (20-799) - - M - - - - - - - MYOP moderate scapular and pelvic weakness (61y); wheelchair bound >61y 1 1 Minttu Marttila
00213596 Fam7 - affected mother/daughter F - - - - - - - CMYO4A;CFTD mild proximal weakness involving trunk, shoulder and hip girdle, minimal involvement of facial and neck muscles, no progression, reflexes absent apart from ankle jerks (1/4), high-arched palate; walk-2y; run-2y 1 2 Minttu Marttila
00213597 Fam8 (20-607) - - F - - - - - - - MYOP axial weakness, neck flexor weakness, mildly rigid spine, lumbar hyperlordosis, mild proximal weakness 1 1 Minttu Marttila
00213598 Fam 29 (20-872) - - F - - - - - - - MYOP scapular amyotrophy, lumbar lordosis, myopathic facies, patellar areflexia; walk-2y6m 1 1 Minttu Marttila
00213599 - - - - - United States - - - - - MYOP - 1 1 Tom Winder
00213600 - - - F - United States - - - - - MYOP - 1 1 Tom Winder
00213601 - - - F - United States - - - - - MYOP - 1 1 Tom Winder
00213602 - - - M - United States - - - - - MYOP - 1 1 Tom Winder
00229642 - - - F yes Brazil - - - - - CMYO4A;CFTD Mild proximal weakness, myopathic face, high arched palate, scapula winging 1 1 Cristiane Moreno
00274430 Pat98 PubMed: Park 2017 - F - Korea - - - - - MD Predominant weakness of proximal and axial muscles, mild ptosis, elongated face, high arched palate, scoliosis and respiratory failure; muscle myopathic pattern with type I predominance; CK 40 IU/L; ECG or echo normal; familial 1 1 Johan den Dunnen
00288977 Pat31 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - - - - CMYO4A;CFTD - 1 1 Johan den Dunnen
00319995 P66/Myo144 PubMed: Cerino 2022, PubMed: Bevilacqua 2022 sporadic case M no Chile Spain, Catalunya - - yes - MYOP nasal speech HP:0001611; exercise intolerance HP:0003546; Polycythemia HP:0001901; Bilateral ptosis HP:0001488; Epicanthus HP:0000286; Retrognathia HP:0000278; High palate HP:0000218; Facial diplegia HP:0001349; Myopathy, Congenital, With Fiber-type Disproportion OMIM:255310; Cap Myopathy ORPHA:171881; Exertional dyspnea HP:0002875 1 1 JA Bevilacqua
00374802 S-3955 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00398953 Fam50Pat56 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - MYOP motor delay; 1y6m-walk, run; no ptosis; no ophthalmoplegia; facial weakness; no flexor weakness; proximal weaksness, no distal weakness; 18y-no cardiac involvement 1 1 Johan den Dunnen
00398954 Fam51Pat57 PubMed: Natera-de Benito 2021 patient F - Spain - - - - - MYOP newborn hypotonia; 2y-walk, run; no ptosis; no ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; 4y-nocturnal noninvasive ventilation; 2y-no cardiac involvement 1 1 Johan den Dunnen
00399037 P93 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - NMD serum CK normal; muscle biopsy congenital fiber type disproportion; scoliosis, myopathic facies, generalized hypotonia 1 1 Johan den Dunnen
00404928 Fam10 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - 1 1 Johan den Dunnen
00404931 Fam13 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - 1 1 Johan den Dunnen
00419177 Fam7Pat7 PubMed: Gurgel-Giannetti 2022 2-generation family, affected son/father M - Brazil - - - - - NEM - 1 2 Johan den Dunnen
00419178 Fam7Pat8 PubMed: Gurgel-Giannetti 2022 father M - Brazil - - - - - NEM - 1 1 Johan den Dunnen
00419928 - PubMed: Pelin 2023 - M no Finland - <05y - - - CMYO4B Failure to thrive (HP:0001508); high, narrow palate (HP:0002705); poor head control (HP:0002421); generalized hypotonia (HP0001290); respiratory insufficiency due to muscle weakness (HP:0002747); type 1 muscle fiber atrophy (HP:0011807); type 1 fibers relatively smaller than type 2 fibers (HP:0003755); nemaline bodies (HP:0003798); central nuclei (HP:0003687). 2 1 Lydia Sagath
00435675 Pat12 PubMed: Haidong 2023 patient, family history F - China - - - - - MYOP see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal III/distal III; high arched palate, elongated face; CK level 115U/L 2 1 Johan den Dunnen
00435676 Pat13 PubMed: Haidong 2023 patient, family history F - China - - - - - MYOP see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal IV/distal IV; high arched palate, elongated face; CK level 146U/L 2 1 Johan den Dunnen
00435677 Pat14 PubMed: Haidong 2023 patient, family history F - China - - - - - MYOP see paper; ..., initial symptom lower limbs weakness; muscle weakness upper limbs proximal V/distal V, lower limbs proximal IV/distal IV; high arched palate, elongated face; CK level 164U/L 2 1 Johan den Dunnen
00455810 Pat50 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
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