Disease #05299 (MFM (myopathy, myofibrillar (MFM)))

Official abbreviation MFM
Name myopathy, myofibrillar (MFM)
OMIM ID -
Inheritance -
Individuals reported having this disease 96
Phenotype entries for this disease 95
Associated with 1 gene KY
Associated tissues -
Disease features -
Remarks -
Date created 2017-06-30 15:34:57 +02:00 (CEST)
Date last edited N/A


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96 entries on 1 page. Showing entries 1 - 96.
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00106496 - - Published by Guglieri M et al., as an abstract of World Muscle Society Annual Congress, Berlin, 2014: Neuromuscular Disorders 24: 832 2014 M ? Iran Kurdish - - - - MFM CPK: 270-1680 ACTA1 ACTA1 1 2 Kristen Nowak
00106497 - PubMed: Sparrow et al, 2003 Published as an abstract of the World Muscle Society Annual Congress in Berlin 2014 - Neuromuscular Disorders 24:793 (2014) M ? - - - - - - MFM Patients described to have features of myofibrillar myopathy pathologically, no nemaline bodies seen. ACTA1 ACTA1 1 1 Kristen Nowak
00183198 - PubMed: Selcen 2009 - M - - - >15y - - - MFM toe walker (early childhood); early teens restrictive cardiomyopathy;13y-heart transplant; 15y-severe diffuse muscle weakness, atrophy, contractures knees/ankles, bilateral diaphragm paralysis, respiratory insufficiency; raised CPK (3x) BAG3 BAG3 1 1 Johan den Dunnen
00183199 - PubMed: Selcen 2009 - F - - - >17y - - - MFM 14y-restrictive respiratory insufficiency, required assisted night ventilation; 15y-hypernasal speech, axial and moderately severe distal more than proximal muscle weakness; 17y-increased spinal stiffness/proximal weakness, EMG and nerve conduction myopathic motor unit potentials, axonal and demyelinating peripheral neuropathy, ECG hypertrophic cardiomyopathy; raised CPK (6x) BAG3 BAG3 1 1 Johan den Dunnen
00183200 - PubMed: Selcen 2009 - M - - - 13y - - - MFM toe walker as toddler; 7y-progressive leg weakness, fatigability, valgus ankle deformity; 11y-moderate proximal muscle weakness, thoracic scoliosis, rigid spine predominantly affecting cervical region, ECG restrictive cardiomyopathy (slightly large left atrium, trivial pulmonary/mitral regurgitation); 12y-rapid progression, marked weakness axial/proximal limb muscles, scapular winging, reduced forced vital capacity; 13y-respiratory insufficiency, intolerant for nocturnal ventilatory support; died after chest infection; raised CPK (15x) BAG3 BAG3 1 1 Johan den Dunnen
00183201 - PubMed: Sabatelli 1992 - M - Italy - 20y - - - MFM 12y-bilateral pes cavus, slight dorsal scoliosis, neck/distal leg muscle weakness progressing to generalized wasting, restrictive cardiomyopathy (secondary enlargement both atria); muscle biopsy showed accumulation dark dense material throughout myofiber sarcoplasm (desmin positive), increment intermyofibrillar spaces, multiple core areas; reduced density myelinated axons, occurrence giant axons; 20y-died cardiac/respiratory failure BAG3 BAG3 1 1 Johan den Dunnen
00183202 - PubMed: Odgerel 2010 - M - United Kingdom (Great Britain) British 15y - - - MFM 5y-problems running 10y-diagnosis restrictive cardiomyopathy; 13y-heart transplantation, ventilator-dependent; global muscle weakness (predominantly proximal/respiratory muscles); muscle biopsy atrophic fibers, focal myofibrillar disorganization, dark inclusions (desmin prominence), moderate reduction large diameter myelinated fibers, visible loss smaller diameter fibers, occasional giant axons having thin/absent myelin sheaths BAG3 BAG3 1 1 Johan den Dunnen
00183203 - PubMed: Odgerel 2010 - M - United Kingdom (Great Britain) British >29y - - - MFM predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 14y-cardiac transplant; 29y-ventilator dependent; severely disabled; muscle biopsy showed myofibrillar breakdown, desmin-reactive inclusions, Z-line streaming BAG3 BAG3 1 1 Johan den Dunnen
00183204 - PubMed: Odgerel 2010 - M - United Kingdom (Great Britain) British 9y - - - MFM predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 9y-died soon after disease onset BAG3 BAG3 1 1 Johan den Dunnen
00183205 - - - M - United States Hispanic - - - - MFM - BAG3 BAG3 1 1 Tom Winder
00183206 - - - F - United States white - - - - MFM - BAG3 BAG3 1 1 Tom Winder
00183207 - - - M - Canada - - - - - MFM - BAG3 BAG3 1 1 Tom Winder
00183244 FamA/PatD2 PubMed: O'Grady 2016, PubMed: Cummings 2017 2-generation family, 2 affected, brothers unaffected heterozygous carrier parents M no - white - - - - MFM 5y-difficulty running; 20y-slowly progressive muscle weakness; 24y-unable to climb stairs from, slow walk with cane; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) distal laxity, resolved with age; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218), dental malocclusion (HP:0000689), elongated face; 12y-dysphagia (HP:0002015), improved; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); 20y-mild thoracic scoliosis (HP:0002650); no spinal rigidity (-HP:0003306); pectus excavatum (HP:0000767); scapular winging (HP:0003691); pes cavus (HP:0001761); no pet planus (-HP:0001763); 15y-restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); 27y-abnormal septal motion and low normal ejection fraction; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods PYROXD1 PYROXD1 2 2 Johan den Dunnen
00183245 FamBPatII2 PubMed: O'Grady 2016 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Turkey - - - - - MFM onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL,LL, axial; P UL, D LL); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); dysphagia (HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 3x PYROXD1 PYROXD1 1 2 Johan den Dunnen
00183246 FamCPatII1 PubMed: O'Grady 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents M no Iran Iran:Jewish - - - - MFM congenital onset hypotonia, mild gross motor delay, 20m-walk, 6y-muscle weakness, increasing difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); Achilles contractures (HP:0001771); joint contracture 5th finger (HP:0009183); joint hypermobility (HP:0001382) elbow and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); surgical correction int. exotropia (HP:0000577); no dysphagia (-HP:002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); 7y mild scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild to moderate pulmonic insufficiency; no elevated CK (-HP:0040081) PYROXD1 PYROXD1 2 2 Johan den Dunnen
00183247 FamDPatII1 PubMed: O'Grady 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - MFM onset 2y, ambulant 22y, difficulty running and climbing, frequent falls, slowly progressive weakness from 20y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783);no cardiac disease; elevated CK (HP:0040081) 3x PYROXD1 PYROXD1 1 2 Johan den Dunnen
00183248 FamEPatII2 PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - MFM onset 4y, easy fatigue, frequent falls, difficulty on stairs, slowly progressive, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); mild mitral and tricuspid insufficiency (HP:0001653); no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones PYROXD1 PYROXD1 2 1 Johan den Dunnen
00205378 - - - - - (United States) - - - - - MFM - CRYAB CRYAB 1 1 Tom Winder
00205383 - PubMed: Selcen 2003 - M - United States - >53y - - - MFM no elevated serum creatine phosphokinase (-HP:003236) ; slowly progressive leg weakness, atrophy with bilateral foot drop, occasional cramping/stiffness leg muscles after exercise, severe weakness anterior tibial, toe extensor, peroneal muscles, mild weakness quadriceps, iliopsoas, hamstring, finger extensor muscles CRYAB CRYAB 1 1 Johan den Dunnen
00205384 - PubMed: Selcen 2003 - M - United States - 58y - - - MFM elevated serum creatine phosphokinase (HP:003236) 6.4x; CRYAB CRYAB 1 1 Johan den Dunnen
00205387 - PubMed: Reilich 2010 mother >60y bilateral foot extensor weakness, maternal grandfather cardiomyopathy M - Germany - >73y - - - MFM elevated serum creatine phosphokinase (HP:003236) 1.5-2.5x; late-onset distal vacuolar myopathy (protein aggregates); affected finger flexors, mild swallowing difficulties (fluids), coronary heart disease, intermittent atrial fibrillations, diabetes mellitus, hyperlipidemia, hypertonia CRYAB CRYAB 1 1 Johan den Dunnen
00208157 18343114_pat PubMed: Shinde 2008 - M ? Japan - - - - - MFM see paper DES, GNE DES 1 1 Johan den Dunnen
00210278 - PubMed: Olive 2005 - - - Spain - - - - - MFM - MYOT MYOT 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 - - - - - MFM phenotype called SBM (spheroid body myopathy) MYOT MYOT 1 21 Johan den Dunnen
00210284 Pat6 PubMed: Selcen 2004, OMIM:var0002 affected son and brother F - United States - >81y - - - MFM cardiomyopathy; no raised CPK level (-HP:0003236) normal MYOT MYOT 1 2 Johan den Dunnen
00210285 - PubMed: Olive 2005 3 unrelated sporadic patients - - Spain - - - - - MFM - MYOT MYOT 1 3 Johan den Dunnen
00210286 Fam1 PubMed: Olive 2005 8 affected 4 generation family - - Spain - - - - - MFM raised CPK level (HP:0003236) 2x MYOT MYOT 1 8 Johan den Dunnen
00210288 Pat1 PubMed: Selcen 2004, OMIM:var0003 - F - United States - >53y - - - MFM raised CPK level (HP:0003236) 2x MYOT MYOT 1 1 Johan den Dunnen
00210289 Pat2 PubMed: Selcen 2004, OMIM:var0003 - M - United States - >61y - - - MFM raised CPK level (HP:0003236) 2x MYOT MYOT 1 1 Johan den Dunnen
00210290 Pat3 PubMed: Selcen 2004, OMIM:var0003 - M - United States - >76y - - - MFM cardiomyopathy; no raised CPK level (-HP:0003236) normal MYOT MYOT 1 1 Johan den Dunnen
00210291 - PubMed: Olive 2005 - - - Spain - - - - - MFM - MYOT MYOT 1 1 Johan den Dunnen
00210292 Fam2 PubMed: Olive 2005 6 affecteds 5 generation family F;M - Spain - - - - - MFM cardiomyopathy MYOT MYOT 1 6 Johan den Dunnen
00210293 Fam3 PubMed: Olive 2005 2 brothers M - Spain - >81y - - - MFM no raised CPK level (-HP:0003236) normal / ? MYOT MYOT 1 2 Johan den Dunnen
00210294 Pat4 PubMed: Selcen 2004, OMIM:var0004 - M - United States - >80y - - - MFM cardiomyopathy; no raised CPK level (-HP:0003236) normal MYOT MYOT 1 1 Johan den Dunnen
00210295 - PubMed: Olive 2005 - - - Spain - - - - - MFM - MYOT MYOT 1 1 Johan den Dunnen
00210296 - PubMed: Olive 2005 - - - Spain - - - - - MFM - MYOT MYOT 1 1 Johan den Dunnen
00210298 Pat5 PubMed: Selcen 2004, OMIM:var0005 - M - United States - >87y - - - MFM raised CPK level (HP:0003236) 2x MYOT MYOT 1 1 Johan den Dunnen
00210301 17698502.II3 PubMed: Berciano 2008 uncle of 17698502.III2 M - Spain - >76y - - - 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 MYOT MYOT 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 - - - MFM late-onset, distal lower-limb weakness; electromyography deltoid, quadriceps, tibialis anterior muscles myopathic pattern; CPK level 1.5x MYOT MYOT 1 11 Johan den Dunnen
00210303 - PubMed: Berciano 2008 5 generation family, 3 affecteds - - Spain - - - - - MFM late-onset, distal lower-limb weakness MYOT MYOT 1 3 Johan den Dunnen
00210310 19590214-PatA PubMed: McNeill 2009 daugther of 19590214-PatAf F - (United Kingdom (Great Britain)) - >43y - - - MFM mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG; no raised CPK level (-HP:0003236) normal MYOT MYOT 1 1 Johan den Dunnen
00210311 19590214-PatAf PubMed: McNeill 2009 father of 19590214-PatA M - (United Kingdom (Great Britain)) - - - - - MFM distal myopathy MYOT MYOT 1 1 Johan den Dunnen
00210312 19590214-PatB PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >57y - - - MFM 55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes; CPK level 1.5x MYOT MYOT 1 1 Johan den Dunnen
00210313 19590214-PatC PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >59y - - - MFM mild proximal arm/leg weakness, Achilles contractures, weakness long finger flexors; CPK level 1.5x MYOT MYOT 1 1 Johan den Dunnen
00210314 19590214-PatD PubMed: McNeill 2009 3-generation family, affected male M - (United Kingdom (Great Britain)) - >68y - - - MFM bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal; raised CPK level (HP:0003236) 4x MYOT MYOT 1 4 Johan den Dunnen
00210315 19590214-PatDb PubMed: McNeill 2009 brother of 19590214-PatD M - (United Kingdom (Great Britain)) - - - - - MFM distal arm/leg weakness MYOT MYOT 1 1 Johan den Dunnen
00210318 19590214-PatE PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >81y - - - 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 MYOT MYOT 1 1 Johan den Dunnen
00210319 19590214-PatF PubMed: McNeill 2009 - M - (United Kingdom (Great Britain)) - >66y - - - 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 MYOT MYOT 1 1 Johan den Dunnen
00210320 19590214-PatFf PubMed: McNeill 2009 father of 19590214-PatF M - (United Kingdom (Great Britain)) - - - - - MFM late-onset muscle weakness, wheelchair bound 64y MYOT MYOT 1 1 Johan den Dunnen
00210321 19590214-PatG PubMed: McNeill 2009 - F - (United Kingdom (Great Britain)) - >67y - - - 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 MYOT MYOT 1 1 Johan den Dunnen
00210322 19590214-PatH PubMed: McNeill 2009 mother difficulty walking mid-60s M - (United Kingdom (Great Britain)) - >85y - - - 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 MYOT MYOT 1 1 Johan den Dunnen
00210326 19027924-Pat1 PubMed: Gamez 2009 - M - Spain - - - - - 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 MYOT MYOT 1 1 Johan den Dunnen
00210327 19027924-Pat1f PubMed: Gamez 2009 father of 19027924-Pat1 M - Spain - 71y - - - MFM gait disorder similar to son MYOT MYOT 1 1 Johan den Dunnen
00210328 19027924-Pat1b PubMed: Gamez 2009 brother of 19027924-Pat1 M - Spain - - - - - 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. MYOT MYOT 1 1 Johan den Dunnen
00210329 19027924-Pat1a PubMed: Gamez 2009 aunt of 19027924-Pat1 F - Spain - - - - - MFM EMG myopathy MYOT MYOT 1 1 Johan den Dunnen
00210330 18653338-Pat18 PubMed: Claeys 2008 - M - - - >71y - - - MFM see paper; … MYOT MYOT 2 1 Johan den Dunnen
00210331 18653338-Pat19 PubMed: Claeys 2008 - M - - - >62y - - - MFM see paper; … MYOT MYOT 2 1 Johan den Dunnen
00210332 16793270-Fam see also PubMed: Penisson-Besniers 1998 3-generation family, 4 affecteds, 2 asymptomatic carriers - - France - - - - - MFM CPK level 1-2x MYOT MYOT 1 6 Johan den Dunnen
00211437 15668942-Pat01 PubMed: Selcen 2005 - M - United States - >50y - - - MFM progressive weakness (proximal); peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs; CPK raised 4x LDB3 LDB3 1 1 Johan den Dunnen
00211438 15668942-Pat02 PubMed: Selcen 2005 affected father, paternal grandfather M - United States - >57y - - - MFM progressive weakness (distal > proximal), muscle atrophy, decreased reflexes; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 6x LDB3 LDB3 1 3 Johan den Dunnen
00211439 15668942-Pat03 PubMed: Selcen 2005 - M - United States - >61y - - - MFM progressive weakness (proximal and distal); no peripheral neuropathy; cardiac ow EF, but has coronary artery disease; EMG myopathic MUPs, fibrillation potentials; CPK normal LDB3 LDB3 1 1 Johan den Dunnen
00211440 15668942-Pat04 PubMed: Selcen 2005 affected father and brother F - United States - >56y - - - MFM progressive weakness (distal > proximal); no peripheral neuropathy; cardiac paroxysmal supraventricular tachycardia; EMG myopathic MUPs, fibrillation potentials; CPK raised 2x LDB3 LDB3 1 3 Johan den Dunnen
00211441 15668942-Pat05 PubMed: Selcen 2005 affected mother, 3 maternal uncles, 1 maternal aunt, maternal great grandmother, 2 sisters M - United States - >54y - - - MFM progressive weakness (distal > proximal); no peripheral neuropathy; cardiac unusual depolarization, early superior forces; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x LDB3 LDB3 1 9 Johan den Dunnen
00211442 15668942-Pat06 PubMed: Selcen 2005 affected father, paternal uncle, paternal grandmother, cousin, 2 brothers M - United States - >69y - - - MFM progressive weakness (proximal > distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic andneurogenic MUPs, fibrillation potentials; CPK raised 1.2x LDB3 LDB3 1 7 Johan den Dunnen
00211443 15668942-Pat07 PubMed: Selcen 2005 affected father M - United States - >45y - - - MFM heart palpitations (proximal); no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials; CPK raised 1.1x LDB3 LDB3 1 2 Johan den Dunnen
00211444 15668942-Pat08 PubMed: Selcen 2005 affected father, paternal uncle M - United States - >58y - - - MFM progressive weakness (distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic and neurogenic MUPs, myotonic discharges; CPK normal LDB3 LDB3 1 3 Johan den Dunnen
00211445 15668942-Pat09 PubMed: Selcen 2005 affected mother, sister M - United States - >64y - - - MFM progressive weakness (distal > proximal), tingling, numbness in the feet, muscle atrophy; peripheral neuropathy; cardiac RBBB, prolonged QT; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x LDB3 LDB3 1 3 Johan den Dunnen
00211446 15668942-Pat10 PubMed: Selcen 2005 - F - United States - >66y - - - MFM progressive weakness (distal > proximal), muscle atrophy; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK normal LDB3 LDB3 1 1 Johan den Dunnen
00211447 15668942-Pat11 PubMed: Selcen 2005 - M - United States - >78y - - - MFM progressive weakness (distal > proximal), distal sensory deficits,perivascular mononuclear cellsepineurium; peripheral neuropathy; no cardiac involvement; EMG severe polyradiculoneuropathy, neurogenic MUPs, fibrillation potentials; LDB3 LDB3 1 1 Johan den Dunnen
00211461 17337483-Fam PubMed: Markesbery 1974, PubMed: Griggs 2007 4-generation family, 12 affecteds (6 deceased), 4 unaffected carriers - - Finland - - - - - MFM - LDB3 LDB3 3 6 Johan den Dunnen
00211462 17337483-III.4 PubMed: Griggs 2007 - F - Finland - >70y - - - MFM 45y-tripping; muscle weakness distal legs 0-2, hands 4, hip flexion and extension 3, walks with DAFO; muscle atrophy lower legs, hands and feet interosseus, thenar and hypothenar, minor in distal forearm LDB3 LDB3 1 1 Johan den Dunnen
00211463 17337483-III.5 PubMed: Griggs 2007 - F - Finland - >65y - - - MFM muscle weakness distal legs 0-2, hands 4, hip flexion and extension 4; muscle atrophy lower legs, hands and feet interosseus, thenar and hypothenar, minor in distal forearm LDB3 LDB3 1 1 Johan den Dunnen
00211464 17337483-IV.5 PubMed: Griggs 2007 - F - Finland - >41y - - - MFM muscle weakness heel cord contractures; no muscle atrophy LDB3 LDB3 1 1 Johan den Dunnen
00211465 17337483-IV.6 PubMed: Griggs 2007 - F - Finland - >57y - - - MFM muscle weakness foot dorsiflexion 2/2; no muscle atrophy LDB3 LDB3 1 1 Johan den Dunnen
00211466 17337483-IV.8 PubMed: Griggs 2007 - M - Finland - >55y - - - MFM not examined LDB3 LDB3 1 1 Johan den Dunnen
00211467 17337483-IV.9 PubMed: Griggs 2007 - F - Finland - >54y - - - MFM 49y-tripping; muscle weakness foot dorsiflexion 5-/5-; no muscle atrophy LDB3 LDB3 1 1 Johan den Dunnen
00211468 17337483-IV.10 PubMed: Griggs 2007 - F - Finland - >52y - - - MFM muscle weakness foot dorsiflexion 4/4; no muscle atrophy LDB3 LDB3 1 1 Johan den Dunnen
00211469 17337483-IV.11 PubMed: Griggs 2007 - F - Finland - >49y - - - MFM thus far unaffected LDB3 LDB3 1 1 Johan den Dunnen
00211470 17337483-IV.12 PubMed: Griggs 2007 - F - Finland - >45y - - - MFM thus far unaffected LDB3 LDB3 1 1 Johan den Dunnen
00211471 17337483-IV.18 PubMed: Griggs 2007 - M - Finland - >39y - - - MFM thus far unaffected LDB3 LDB3 1 1 Johan den Dunnen
00211472 17337483-FamUK PubMed: Griggs 2007 - - - United Kingdom (Great Britain) - - - - - MFM - LDB3 LDB3 1 1 Johan den Dunnen
00211473 17337483-FamFR PubMed: Griggs 2007 - - - France - - - - - MFM - LDB3 LDB3 1 1 Johan den Dunnen
00211477 - PubMed: Selcen 2005 - - - - - - - - - MFM - LDB3 LDB3 1 1 Johan den Dunnen
00211478 - PubMed: Selcen 2005 - - - - - - - - - MFM - LDB3 LDB3 1 1 Johan den Dunnen
00211479 - PubMed: Olivé 2011 one family - - Spain - - - - - MFM - LDB3 LDB3 1 1 Johan den Dunnen
00211480 - PubMed: Selcen 2005 - - - - - - - - - MFM - LDB3 LDB3 1 1 Johan den Dunnen
00211481 21676617-Fam2/3 PubMed: Olivé 2011 2 families - - Spain - - - - - MFM - LDB3 LDB3 1 2 Johan den Dunnen
00226274 FamAPatII2 PubMed: O'Grady 2016 younger brother M no - European - - - - MFM onset 8y, stable in childhood, mild progression from teenage years, increasing difficulty with stairs; symmetrical limb weakness (HP:0001324) (UL, LL, axial; P, D); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); joint hypermobility (HP:0001382) distal laxity, partial patella subluxations; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602); high arched palate (HP:0000218); dental malocclusion (HP:0000689), elongated face; dysphagia (HP:0002015), plus nasal regurgitation from 9y, surgery for VPI; no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081) 5x PYROXD1 PYROXD1 2 1 Johan den Dunnen
00226313 FamBPatII3 PubMed: O'Grady 2016 brother M yes Turkey - - - - - MFM onset 10y, still ambulant 31y; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial; P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), no high arched palate (-HP:0000218); micrognathia and retrognathia (HP:0000308); no dysphagia (-HP:0002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (HP:0000767); mild scapular winging (HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); restrictive lung disease (HP:0002091); no recurrent infections (-HP:0002783); no cardiac disease; elevated CK (HP:0040081), 4x; histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization, thin filament accumulations and nemaline rods PYROXD1 PYROXD1 1 1 Johan den Dunnen
00226314 FamCPatII2 PubMed: O'Grady 2016 brother M no Iran Iran:Jewish - - - - MFM infantile onset hypotonia, 13m-walk, stable strength, difficulty climbing stairs; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL, axial); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (- HP:0009183); joint hypermobility (HP:0001382) mild at elbow, wrist, and metocarpophalyngeal joints; facial weakness (HP:0002058); no ptosis (-HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); no dysphagia (-HP:0002015); chewing difficulties (HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); spinal rigidity (HP:0003306), thoracolumbar; no pectus excavatum (-HP:0000767); mild asymmetric scapular winging (HP:0003691); no pes cavus (-HP:0001761); no pes planus -HP:0001763); no restrictive lung disease (-HP:0002091); recurrent infections (HP:0002783); no cardiac disease; no elevated CK (-HP:0040081); histology shows internalized nuclei, central cones, myofibrillar inclusions, sarcomeric disorganization PYROXD1 PYROXD1 2 1 Johan den Dunnen
00226315 FamDPatII3 PubMed: O'Grady 2016 brother M yes Turkey - - - - - MFM onset 2y6m, 17y ambulant, difficulty climbing, stable in childhood; symmetrical limb weakness (HP:0001324) (symmetrical; UL, LL; axial P); reduced or absent hyporeflexia (HP:0001265); no Achilles contractures (-HP:0001771); no joint contracture 5th finger (-HP:0009183); no joint hypermobility (-HP:0001382); facial weakness (HP:0002058); mild ptosis (HP:0000508); no ophthalmoplegia (-HP:0000602), high arched palate (HP:0000218); elongated face (HP:0000276); dysphagia (HP:002015); no chewing difficulties (-HP:0030193); nasal speech (HP:0001611); no scoliosis (-HP:0002650); no spinal rigidity (-HP:0003306); no pectus excavatum (-HP:0000767); no scapular winging (-HP:0003691); no pes cavus (-HP:0001761); pes planus (HP:0001763); no restrictive lung disease (-HP:0002091); no recurrent infections (-HP:0002783);no cardiac disease; elevated CK (HP:0040081) 2x; histology shows internalized nuclei, central cones PYROXD1 PYROXD1 1 1 Johan den Dunnen
00269796 - - - M - Greece - 23y - - - MFM - - GNE 1 1 Corinne Metay
00458526 - - - - - France - - - - - MFM - - UNC45B 1 1 Svetlana Gorokhova
00462284 - - - M no - - - - - - MFM Spinal rigidity (HP:0003306) CNTN1, HSPB8, NEB, SLC25A1, SLC5A7, SYNE2, TNXB HSPB8 1 1 Jingchu Yuan
00462288 - - - - - China - - - - - MFM - HSPB8 HSPB8 1 1 Jingchu Yuan
00462289 - - - - - China - - - - - MFM Spinal rigidity (HP:0003306) HSPB8 HSPB8 1 1 Jingchu Yuan
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