Phenotypes for disease #05299 (MFM (myopathy, myofibrillar (MFM)))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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Example	Matches
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95 entries on 1 page. Showing entries 1 - 95.

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How to query

Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000084300	CPK: 270-1680	-	-	Unknown	-	-	-	-	Kristen Nowak	00106496
0000084301	Patients described to have features of myofibrillar myopathy pathologically, no nemaline bodies seen.	-	-	Unknown	-	1d	-	-	Kristen Nowak	00106497
0000143952	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)	MFM-B	MFM-6	Isolated (sporadic)	-	-	-	BAG3 wide and faster migrating band	Johan den Dunnen	00183198
0000143953	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)	MFM-B	MFM-6	Isolated (sporadic)	-	13y	scoliosis, rigid spine, easy fatigability	BAG3 wide and faster migrating band	Johan den Dunnen	00183199
0000143954	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)	MFM-B	MFM-6	Isolated (sporadic)	-	-	-	BAG3 wide and faster migrating band	Johan den Dunnen	00183200
0000143955	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	myopathy, myofibrillar	MFM-6	Isolated (sporadic)	-	12y	-	-	Johan den Dunnen	00183201
0000143956	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	myopathy, myofibrillar	MFM-6	Isolated (sporadic)	-	5y	-	-	Johan den Dunnen	00183202
0000143957	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	myopathy, myofibrillar	MFM-6	Isolated (sporadic)	-	12y	-	-	Johan den Dunnen	00183203
0000143958	predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 9y-died soon after disease onset	myopathy, myofibrillar	MFM-6	Isolated (sporadic)	-	9y	-	-	Johan den Dunnen	00183204
0000143959	-	myopathy, myofibrillar	MFM-6	Isolated (sporadic)	-	-	-	-	Tom Winder	00183205
0000143960	-	myopathy, myofibrillar	MFM-6	Unknown	-	-	-	-	Tom Winder	00183206
0000143961	-	myopathy, myofibrillar	MFM-6	Unknown	-	-	-	-	Tom Winder	00183207
0000143974	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	29y	05y	difficulty running	-	Johan den Dunnen	00183244
0000143975	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	31y	08y	-	-	Johan den Dunnen	00183245
0000143976	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)	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	09y	00y00m01d	hypotonia	-	Johan den Dunnen	00183246
0000143977	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	22y	02y	-	-	Johan den Dunnen	00183247
0000143978	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	15y	04y	easy fatigue	-	Johan den Dunnen	00183248
0000153571	-	myopathy, myofibrillar, infantile	MFM-2	Unknown	-	-	-	-	Tom Winder	00205378
0000153576	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	myofibrillar myopathy	MFM-2	Isolated (sporadic)	-	33y	-	-	Johan den Dunnen	00205383
0000153577	elevated serum creatine phosphokinase (HP:003236) 6.4x;	myofibrillar myopathy	MFM-2	Isolated (sporadic)	-	52y	ventilatory insufficiency, paralysis right/reduced movement left diaphragm	-	Johan den Dunnen	00205384
0000153580	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	myopathy, myofibrillar, distal vacuolar	MFM-2	Unknown	-	68y	slowly progressive distal leg weakness/atrophy (bilateral foot extensor weakness)	-	Johan den Dunnen	00205387
0000155927	see paper	myofibrillar myopathy	MFM-1	Unknown	-	-	-	-	Johan den Dunnen	00208157
0000158844	-	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210278
0000158845	phenotype called SBM (spheroid body myopathy)	myotilinopathy	MFM-3	Unknown	-	30y-40y	-	-	Johan den Dunnen	00210279
0000158850	cardiomyopathy; no raised CPK level (-HP:0003236) normal	myofibrillar myopathy	MFM-3	Familial	-	51y	-	-	Johan den Dunnen	00210284
0000158851	-	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210285
0000158852	raised CPK level (HP:0003236) 2x	myofibrillar myopathy	MFM-3	Unknown	-	48y-52y	-	-	Johan den Dunnen	00210286
0000158854	raised CPK level (HP:0003236) 2x	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	50y	-	-	Johan den Dunnen	00210288
0000158855	raised CPK level (HP:0003236) 2x	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	54y	-	-	Johan den Dunnen	00210289
0000158856	cardiomyopathy; no raised CPK level (-HP:0003236) normal	myofibrillar myopathy	MFM-3	Familial	-	67y	-	-	Johan den Dunnen	00210290
0000158857	-	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210291
0000158858	cardiomyopathy	myofibrillar myopathy	MFM-3	Unknown	-	58y-60y	-	-	Johan den Dunnen	00210292
0000158859	no raised CPK level (-HP:0003236) normal / ?	myofibrillar myopathy	MFM-3	Familial	-	65y	-	-	Johan den Dunnen	00210293
0000158860	cardiomyopathy; no raised CPK level (-HP:0003236) normal	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	77y	-	-	Johan den Dunnen	00210294
0000158861	-	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210295
0000158862	-	myofibrillar myopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210296
0000158864	raised CPK level (HP:0003236) 2x	myofibrillar myopathy	MFM-3	Unknown	-	-	-	-	Johan den Dunnen	00210298
0000158867	late-onset, distal lower-limb weakness; thigh and leg muscle atrophy, gait only with support combining bilateral steppage and waddling; CPK level 1.5x	myotilinopathy	MFM-3	Unknown	-	50y	slowly progressive leg weakness (ankle twisting, stumbling)	-	Johan den Dunnen	00210301
0000158868	late-onset, distal lower-limb weakness; electromyography deltoid, quadriceps, tibialis anterior muscles myopathic pattern; CPK level 1.5x	myotilinopathy	MFM-3	Unknown	-	53y	slowly progressive weakness	-	Johan den Dunnen	00210302
0000158869	late-onset, distal lower-limb weakness	myotilinopathy	MFM-3	Unknown	-	-	-	-	Johan den Dunnen	00210303
0000158876	mild proximal limb weakness, EMG myopathic changes, normal pulmonary function tests and ECG; no raised CPK level (-HP:0003236) normal	myotilinopathy	MFM-3	Familial	-	40y	leg aches upon exertion	-	Johan den Dunnen	00210310
0000158877	distal myopathy	myotilinopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210311
0000158878	55y-distal leg weakness, marked weakness foot dorsiflexion/plantarflexion, Achilles tendon contractures, normal PFTs, EMG myopathic changes; CPK level 1.5x	myotilinopathy	MFM-3	Isolated (sporadic)	-	55y	difficulty walking	-	Johan den Dunnen	00210312
0000158879	mild proximal arm/leg weakness, Achilles contractures, weakness long finger flexors; CPK level 1.5x	myotilinopathy	MFM-3	Isolated (sporadic)	-	54y	difficulty climbing stairs	-	Johan den Dunnen	00210313
0000158880	bilateral weakness finger extensors/foot dorsiflexors/plantarflexors, EMG mixed myopathic/neuropathic changes, PFTs/echocardiogram normal; raised CPK level (HP:0003236) 4x	myotilinopathy	MFM-3	Familial	-	59y	weakness finger extensors	-	Johan den Dunnen	00210314
0000158881	distal arm/leg weakness	myotilinopathy	MFM-3	Familial	-	-	-	-	Johan den Dunnen	00210315
0000158884	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	myotilinopathy	MFM-3	Isolated (sporadic)	-	66y	foot drop	-	Johan den Dunnen	00210318
0000158885	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	myotilinopathy	MFM-3	Familial	-	45y	difficulty climbing stairs	-	Johan den Dunnen	00210319
0000158886	late-onset muscle weakness, wheelchair bound 64y	myotilinopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210320
0000158887	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	myotilinopathy	MFM-3	Isolated (sporadic)	-	59y	foot drop	-	Johan den Dunnen	00210321
0000158888	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	myotilinopathy	MFM-3	Isolated (sporadic)	-	76y	bilateral foot drop, weak finger flexion	-	Johan den Dunnen	00210322
0000158892	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	myotilinopathy	MFM-3	Familial	-	-	-	-	Johan den Dunnen	00210326
0000158893	gait disorder similar to son	myotilinopathy	MFM-3	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00210327
0000158894	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.	myotilinopathy	MFM-3	Familial	-	-	-	-	Johan den Dunnen	00210328
0000158895	EMG myopathy	myotilinopathy	MFM-3	Familial	-	-	-	-	Johan den Dunnen	00210329
0000158896	see paper; …	myotilinopathy	MFM-3	Unknown	-	-	-	-	Johan den Dunnen	00210330
0000158897	see paper; …	myotilinopathy	MFM-3	Unknown	-	-	-	-	Johan den Dunnen	00210331
0000158898	CPK level 1-2x	myotilinopathy	MFM-3	Familial	-	-	-	-	Johan den Dunnen	00210332
0000159919	progressive weakness (proximal); peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs; CPK raised 4x	myofibrillar myopathy	MFM	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00211437
0000159920	progressive weakness (distal > proximal), muscle atrophy, decreased reflexes; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 6x	myofibrillar myopathy	MFM	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00211438
0000159921	progressive weakness (proximal and distal); no peripheral neuropathy; cardiac ow EF, but has coronary artery disease; EMG myopathic MUPs, fibrillation potentials; CPK normal	myofibrillar myopathy	MFM	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00211439
0000159922	progressive weakness (distal > proximal); no peripheral neuropathy; cardiac paroxysmal supraventricular tachycardia; EMG myopathic MUPs, fibrillation potentials; CPK raised 2x	myofibrillar myopathy	MFM	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00211440
0000159923	progressive weakness (distal > proximal); no peripheral neuropathy; cardiac unusual depolarization, early superior forces; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK raised 2x	myofibrillar myopathy	MFM	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00211441
0000159924	progressive weakness (proximal > distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic andneurogenic MUPs, fibrillation potentials; CPK raised 1.2x	myofibrillar myopathy	MFM	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00211442
0000159925	heart palpitations (proximal); no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials; CPK raised 1.1x	myofibrillar myopathy	MFM	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00211443
0000159926	progressive weakness (distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic and neurogenic MUPs, myotonic discharges; CPK normal	myofibrillar myopathy	MFM	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00211444
0000159927	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	myofibrillar myopathy	MFM	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00211445
0000159928	progressive weakness (distal > proximal), muscle atrophy; no peripheral neuropathy; no cardiac involvement; EMG myopathic MUPs, fibrillation potentials, myotonic discharges; CPK normal	myofibrillar myopathy	MFM	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00211446
0000159929	progressive weakness (distal > proximal), distal sensory deficits,perivascular mononuclear cellsepineurium; peripheral neuropathy; no cardiac involvement; EMG severe polyradiculoneuropathy, neurogenic MUPs, fibrillation potentials;	myofibrillar myopathy	MFM	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00211447
0000159943	-	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211461
0000159944	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	myofibrillar myopathy	MFM	Unknown	-	39y	ankle jerks	-	Johan den Dunnen	00211462
0000159945	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	myofibrillar myopathy	MFM	Unknown	-	44y	tripping	-	Johan den Dunnen	00211463
0000159946	muscle weakness heel cord contractures; no muscle atrophy	myofibrillar myopathy	MFM	Unknown	-	41y	lower toe spreading	-	Johan den Dunnen	00211464
0000159947	muscle weakness foot dorsiflexion 2/2; no muscle atrophy	myofibrillar myopathy	MFM	Unknown	-	45y	foot dorsiflexion 4/4	-	Johan den Dunnen	00211465
0000159948	not examined	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211466
0000159949	49y-tripping; muscle weakness foot dorsiflexion 5-/5-; no muscle atrophy	myofibrillar myopathy	MFM	Unknown	-	53y	foot dorsiflexion	-	Johan den Dunnen	00211467
0000159950	muscle weakness foot dorsiflexion 4/4; no muscle atrophy	myofibrillar myopathy	MFM	Unknown	-	41y	foot/toe dorsiflexion	-	Johan den Dunnen	00211468
0000159951	thus far unaffected	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211469
0000159952	thus far unaffected	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211470
0000159953	thus far unaffected	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211471
0000159954	-	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211472
0000159955	-	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211473
0000159959	-	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211477
0000159960	-	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211478
0000159961	-	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211479
0000159962	-	myofibrillar myopathy	MFM	Unknown	-	-	-	-	Johan den Dunnen	00211480
0000171400	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	26y	08y	muscle weakness	-	Johan den Dunnen	00226274
0000171436	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	31y	10y	-	-	Johan den Dunnen	00226313
0000171437	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	07y	-	hypotonia	-	Johan den Dunnen	00226314
0000171438	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	myofibrillar myopathy	MFM-8	Familial, autosomal recessive	17y	02y06m	-	-	Johan den Dunnen	00226315
0000207633	-	-	-	Familial, autosomal recessive	-	-	-	-	Corinne Metay	00269796
0000346961	-	-	-	Familial, autosomal recessive	-	-	-	-	Svetlana Gorokhova	00458526
0000349785	Spinal rigidity (HP:0003306)	myositis	-	Familial, autosomal dominant	26y	16y	Difficulty running (HP:0009046)	-	Jingchu Yuan	00462284
0000349787	-	myositis	-	Familial, autosomal dominant	61	51	-	-	Jingchu Yuan	00462288
0000349788	Spinal rigidity (HP:0003306)	-	-	Familial, autosomal dominant	24	15	Difficulty running (HP:0009046)	-	Jingchu Yuan	00462289

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Global Variome shared LOVD