Disease #00244 (MYOP (myopathy (MYOP)))

Official abbreviation MYOP
Name myopathy (MYOP)
OMIM ID -
Inheritance -
Individuals reported having this disease 726
Phenotype entries for this disease 658
Associated with 4 genes FDX1L, FXR1, MYL1, NDUFAF7
Associated tissues -
Disease features -
Remarks -


Individuals

726 entries on 8 pages. Showing entries 1 - 100.
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00003030 - - recurrent myoglobinuria F yes Israel Morocco;Jewish - 0 - - MYOP - - FDX1L 1 1 Ronen Spiegel
00004155 - - - - ? United States - - 0 - - MYOP - ATP2A1 ATP2A1 2 2 Nyamkhishig Sambuughin
00004540 - - - M no United Kingdom (Great Britain) white - 0 - - MYOP mtDNA depletion myopathy TK2 TK2 2 1 Robert McFarland
00024128 - PubMed: Saunders 2015, Journal: Saunders 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - 0 - - MYOP suspected mitochondrial myopathy manifested as progressive muscle weakness, hypotonia, seizures, poor weight gain, lactic acidosis - PNPLA8 2 1 Carol Saunders
00035383 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot COL6A1 COL6A1 1 1 Andreas Laner
00035384 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot COL6A1 COL6A1 1 1 Andreas Laner
00035385 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot COL6A1 COL6A1 1 1 Andreas Laner
00035386 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot COL6A1 COL6A1 1 1 Andreas Laner
00035388 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot COL6A1 COL6A1 1 1 Andreas Laner
00035389 - - - - - Germany - - 0 - - MYOP myopathia since the forth year of life, tetralogy of Fallot COL6A1 COL6A1 1 1 Andreas Laner
00035839 - - - - - Germany - - 0 - - MYOP myopathy FKRP FKRP 1 1 Andreas Laner
00054896 - - - F - Germany - - 0 - - MYOP myotonic dystrophy like MBNL1 MBNL1 1 1 Mirjam Larsen
00054897 - - - F - Germany - - 0 - - MYOP myotonic dystrophie like MBNL1 MBNL1 1 1 Mirjam Larsen
00054898 - - - F no Germany - - 0 - - MYOP myotonic dystrophy like MBNL1 MBNL1 1 1 Mirjam Larsen
00056142 - - - M - Japan - - 0 - - MYOP myopathy, proximal dominant; CPK 811 GNE GNE 2 1 Johan den Dunnen
00056263 - - - M no Portugal White (non-latino/hispanic) >35y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056264 - - - M no United States Asian (non-latino/hispanic) >32y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056265 - - - M no India Asian >33y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056266 - - - M no India Asian >52y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056267 - - - F no Mexico White (Latino/hispanic) >51y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056268 - - - F no Turkey White (non-latino/hispanic) >31y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056269 - - - M no Iran Asian >32y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056270 - - - F no United States White (non-latino/hispanic) >46y 0 - - MYOP myopathy GNE GNE 2 1 Frank Celeste
00056373 - - - F - Sweden - - 0 - - MYOP mild, adult onset DNM2 DNM2 1 1 Olivera Casar-Borota
00063263 - - - F yes - (not applicable) - - 0 - - MYOP - - KY 1 1 Carola Hedberg-Oldfors
00073635 - - Two siblings (one boy and one girl) - no - - - 0 - - MYOP Muscular hypotrophy, cognitive and psychomotor delay, epilepsy, congenital cataract, scoliosis, lactic acidosis and deficiency of the mitochondrial respiratory chain GFER GFER 2 2 Sophie Nambot
00073639 - - Two siblings (one boy and one girl) - no - - - 0 - - MYOP muscular hypotrophy and hypotonia, psychomotor delay, ID, congenital cataract,lactic acidosis, mitochondrial disorders GFER GFER 2 2 Sophie Nambot
00078525 - - - F no Israel - - 0 - - MYOP Laing distal myopathy-like phenotypes with variable expressivity and neck extensor contracture; myopathy, scapuloperoneal, MYH7-related (SPMM) MYH7 MYH7 2 1 Yonatan Perez
00078898 - PubMed: Majczenko 2012 - F no United States - >8y 0 - - MYOP myopathy, congenital; increasing falls and decreasing exercise tolerance (wheelchair for long distances); weakness distal>proximal, hand intrinsics most involved; no eye muscle involvement, no respiratory involvement, no cardiac involvement; normal school performance; prominent myalgias; normal EMG; biopsy type I fiber predominance, core-like areas, central nuclei >25% fibers; normal; normal CPK (-HP:0003236); areas DES/actin immunopositivity CCDC78 CCDC78 1 128 Johan den Dunnen
00078899 - PubMed: Majczenko 2012 - F no United States - >5y 0 - - MYOP myopathy, congenital; no progression; diffuse weakness; no eye muscle involvement, no respiratory involvement, no cardiac involvement; delayed cognitive development; prominent myalgias; no EMG; type I fiber predominance, core-like areas, central nuclei 10% fibers; mild MR; normal CPK (-HP:0003236); DES diffusely positive cytoplasmic staining CCDC78 CCDC78 1 129 Johan den Dunnen
00078900 - PubMed: Majczenko 2012 - F no United States - >28y 0 - - MYOP myopathy, congenital; worsening exercise tolerance (ambulation independent); mild distal only weakness; ; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; myalgias and muscle cramping; normal EMG; fiber atrophy (type I and II), core-like areas; mild MR; normal CPK (-HP:0003236); DES positive cytoplasmic staining CCDC78 CCDC78 1 130 Johan den Dunnen
00078901 - PubMed: Majczenko 2012 - M no United States - >25y 0 - - MYOP myopathy, congenital; progressive gait difficulties (requires assistance with prolonged ambulation); weakness distal>proximal, LE>UE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; ankylosing spondylitis; epilepsy; mild MR; increased CPK (HP:0003236) 129-355 IU/L CCDC78 CCDC78 1 131 Johan den Dunnen
00078902 - PubMed: Majczenko 2012 - F no United States - >48y 0 - - MYOP myopathy, congenital; worsening exercise intolerance; weakness mild distal only in UE, mild diffuse weakness in LE; no eye muscle involvement, no respiratory involvement, no cardiac involvement; mild cognitive difficulties; mild MR; normal CPK (-HP:0003236) CCDC78 CCDC78 1 132 Johan den Dunnen
00101193 mail - - - - - - - 0 - - MYOP myopathy GAA GAA 1 1 Arnold Reuser
00102323 ? - - F - United States Hispanic - 0 - - MYOP myopathy LAMA2 LAMA2 2 1 Tom Winder
00102518 21896784-Pat55 - - - - - - - 0 - - MYOP myopathy; sarcotubular proliferation LAMA2 LAMA2 4 1 Johan den Dunnen
00103327 27858741-Pat3 PubMed: Nelson 2015 1-generation family, 2 affecteds (2M) M - France Portuguese parents >50y 0 - - MYOP Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), joint contracture (HP:0001371), calf muscle hypertrophy (HP:0008981), dilated cardiomyopathy (HP:0001644), hyperintensity of cerebral white matter on MRI (HP:0030890) LAMA2 LAMA2 2 2 Jorge Oliveira
00103461 27858741-Pat4 PubMed: Nelson 2015 1-generation family, 2 affecteds (2M) M - France Portuguese parents - 0 - - MYOP Elevated serum creatine phosphokinase (HP:0003236), proximal muscle weakness in lower limbs (HP:0008994) and upper limbs (HP:0008997), joint contracture (HP:0001371), hyperintensity of cerebral white matter on MRI (HP:0030890) LAMA2 LAMA2 2 1 Jorge Oliveira
00104300 FamI PubMed: Ferreiro 2004 2-generation family, 2 affected (2M) M - Belgium - - 0 - - MYOP myopathy, desmin-related (DRM) SEPN1 SEPN1 1 2 Johan den Dunnen
00104302 FamII PubMed: Ferreiro 2004 11-generation family, 4 affected (2F, 2M), distant relatives, genetic isolate F;M yes Germany - - 0 - - MYOP myopathy, desmin-related, Mallory body-like inclusions SEPN1 SEPN1 1 4 Johan den Dunnen
00104324 ? - - F - United States African American - 0 - - MYOP - SEPN1 SEPN1 1 1 Tom Winder
00104329 ? - - F - United States - - 0 - - MYOP - SEPN1 SEPN1 1 1 Tom Winder
00104330 ? - - F - United States - - 0 - - MYOP - SEPN1 SEPN1 1 1 Tom Winder
00104332 ? - - - - United States - - 0 - - MYOP - SEPN1 SEPN1 2 1 Tom Winder
00104373 ? - - - - (United States) - - 0 - - MYOP myopathy, scoliosis, reduced muscle mass; biopsy with myopathic and dystrophic changes SEPN1 SEPN1 2 1 Tom Winder
00104460 ? - - - - Sweden - - 0 - - MYOP core myopathy SEPN1 SEPN1 2 1 Tom Winder
00104490 ? - - - - El Salvador - - 0 - - MYOP - SEPN1 SEPN1 2 1 Tom Winder
00104494 ? - - F - United States - - 0 - - MYOP congenital hypotonia and weakness with sparing of ocular muscles, prominent neck weakness, scoliosis, nocturnal BiPAP support. SEPN1 SEPN1 2 1 Tom Winder
00106167 - PubMed: Kaindl et al, 2004, OMIM:var0009 11 affected members in 4 generations from 8 separate sibship - - Germany - - 0 - - MYOP dominant congenital myopthy; patients show generalized proximal weakness in early childhood; non-progressive ACTA1 ACTA1 1 11 Kristen Nowak
00106173 - PubMed: Goebel et al, 1997; H. Goebel, Germany; J. Anderson (England) - - - (Germany) - - 0 - - MYOP AM; Patient # 2 in Goebel et al., 1997 ACTA1 ACTA1 1 1 Kristen Nowak
00106174 - PubMed: Goebel et al, 2006, PubMed: Goebel et al, 2004 - - - - - - 0 - - MYOP AM; 2.5y-floppy, very limited movement, dependent on a respirator ACTA1 ACTA1 1 1 Kristen Nowak
00106222 - PubMed: Koy et al, 2007 - - - (Germany) - - 0 - - MYOP intranuclear rod myopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106226 - PubMed: Bornemann et al, 1996; H. Schmalbruch, Denmark - - - (Denmark) - - 0 - - MYOP AM ACTA1 ACTA1 1 1 Kristen Nowak
00106227 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - MYOP AM, severe ACTA1 ACTA1 1 1 Alan Beggs
00106228 - PubMed: Laing et al, 2009 - - - (United States) - - 0 - - MYOP AM, severe; deceased when ventilator withdrawn ACTA1 ACTA1 1 1 Kristen Nowak
00106229 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - MYOP AM ACTA1 ACTA1 1 1 Kristen Nowak
00106231 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - MYOP intranuclear rod myopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106233 - PubMed: Laing et al, 2009 - - - (United States) - - 0 - - MYOP intranuclear rod myopathy ACTA1 ACTA1 1 1 Alan Beggs
00106234 - PubMed: Goebel et al, 1997; H. Goebel, Germany; C. Hubner, Germany - - - (Germany) - - 0 - - MYOP AM; IRM; Patient 1 in Goebel et al., 1997 ACTA1 ACTA1 1 1 Kristen Nowak
00106235 - PubMed: Goebel et al, 1997; H. Goebel, Germany - - - (Germany) - - 0 - - MYOP AM; IRM ACTA1 ACTA1 1 1 Kristen Nowak
00106236 - PubMed: Weeks et al,2003, PubMed: Kaimaktchiev et al, 2006 - - - (United States) - - 0 - - MYOP intranuclear rod myopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106319 - PubMed: Sparrow et al, 2003 - - - (Canada) - - 0 - - MYOP intranuclear rod myopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106321 - PubMed: Sparrow et al, 2003 - - - (Israel) - - 0 - - MYOP AM ACTA1 ACTA1 1 1 Kristen Nowak
00106332 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - MYOP intranuclear rod myopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106422 - PubMed: Laing et al, 2009 - M - (United Kingdom (Great Britain)) - - 0 - - MYOP intranuclear rod myopathy; deceased; Email from Francesco 6.1.09 ACTA1 ACTA1 1 1 Kristen Nowak
00106438 - PubMed: Hung 2010 father Trinidad, mother United Kingdom (Scotland) M - Canada - - 0 - - MYOP cap myopathy; pregnancy reduced fetal movements; birth weight 3160g, 39w, caesarian section; respiratory efforts (1h intubated), weak cry, low hairline, micrognathia, high arched palate, single palmar crease, long fingers, undescended testes; GJ tube and tracheostomy; 4y11m-hypotonic, generalized muscle atrophy, muscle strength MRC2/5 (upper)/1/5 (lower extremities), absent deep tendon reflexes; died cardiac arrest ACTA1 ACTA1 1 1 Johan den Dunnen
00106448 - - - F - United States white - 0 - - MYOP myopathy, congenital ACTA1 ACTA1 1 1 Tom Winder
00106449 - PubMed: Stenzel et al 2010 - F - - - - 0 - - MYOP myopathy, actin; akinesia, foetal ACTA1 ACTA1 1 1 Kristen Nowak
00106452 - - - M - United States white - 0 - - MYOP myopathy; cardiomyopathy ACTA1 ACTA1 1 1 Tom Winder
00106455 - - - F - United States - - 0 - - MYOP myopathy ACTA1 ACTA1 1 1 Tom Winder
00106456 - - - - - Sweden - - 0 - - MYOP myopathy, congenital ACTA1 ACTA1 1 1 Tom Winder
00106459 - - sporadic patient, 2 years old, de novo mutation F no Germany - - 0 - - MYOP congenital myopathy with fibre type disproportion, normal CK values; CPK: normal ACTA1 ACTA1 1 1 Wolfram Kress
00106465 - - - M no United Kingdom (Great Britain) White British - 0 - - MYOP Congenital myopathy; Hypotonic from birth. Knee flexion and hip flexion contractures, predominantly proximal weakness.; CPK: 38 ACTA1 ACTA1 1 1 Thomas Cullup
00106480 - - - M ? - - - 0 - - MYOP congenital myopathy with CFTD; decreased fetal movements, hypotonia, delayed motor milestones, joint laxity; muscle weakness: facial, axial, proximal mostly; CPK: normal ACTA1 ACTA1 1 1 Thomas Cullup
00106481 - - - M - United States African American - 0 - - MYOP myopathy ACTA1 ACTA1 1 1 Tom Winder
00106490 - - - F - Australia - - 0 - - MYOP myopathy, congenital; died at 4m ACTA1 ACTA1 1 1 Kristen Nowak
00106491 - - patient from NSW Australia F - Australia - - 0 - - MYOP myopathy, congenital; facial diplegia, poor gag & swallowing, marked truncal and neck hypotonia, reflexes present but diminished ACTA1 ACTA1 1 1 Kristen Nowak
00106493 - - - F - United States - - 0 - - MYOP myopathy, congenital; dilated cardiomyopathy (severe) ACTA1 ACTA1 1 1 Tom Winder
00106504 - PubMed: Chou et al 2013 - F - Japan - - 0 - - MYOP intranuclear rod myopathy,u atonomic dysfunction ACTA1 ACTA1 1 1 Kristen Nowak
00106509 - - - - ? (United Kingdom (Great Britain)) - - 0 - - MYOP congenital myopathy; Muscle biopsy with core myopathy, increased internal nuclei, type 1 predominance. Other family members not yet analysed ACTA1 ACTA1 1 1 Kristen Nowak
00106510 - - - - - (United Kingdom (Great Britain)) - - 0 - - MYOP congenital myopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106511 - - - - - (United Kingdom (Great Britain)) - - 0 - - MYOP myotubular myopathy;e tsting other familiy members not done yet ACTA1 ACTA1 1 1 Kristen Nowak
00106658 25747004-Pat PubMed: Sewry 2015 3-generation family, affected man/daughter, unaffected parents (not available for testing) M - United Kingdom (Great Britain) - - 0 - - MYOP diagnosed with zebra body myopathy, has affected daughter ACTA1 ACTA1 1 2 Kristen Nowak
00106681 - - Patient of Anna Sarkozy, London. Patient described as having congenital myopathy with no nemaline rods seen ? - United Kingdom (Great Britain) - - 0 - - MYOP Congenital myopathy - no rods ACTA1 ACTA1 1 1 Kristen Nowak
00106683 - PubMed: Donkervoort et al, 2017 Patient one of three described in the paper with severe lack of movement and cytoplasmic bodies on muscle biopsy. The other two patients are fraternal twins. All have the same (p.Asn94Lys) variant M ? (United States) - - 0 - - MYOP Profoundly hypotonic at birth with no perceivable movements, other than eye movements. Discharged at 4 months of age on mechanical ventilation. Last examination described at age 5: some flicker movements of fingers and toes ACTA1 ACTA1 1 1 Kristen Nowak
00106684 - PubMed: Donkervoort et al, 2017 Fraternal twins with profound lack of movement and cytoplasmic bodies, not nemaline bodies on muscle biopsy M - (United States) - 00y06m 0 - - MYOP Fraternal twins described by Donkervoort et al 2017 with cytoplasmic body myopathy. Both twins had evidence of facial weakness, generalized hypotonia with marked head lag, and severe weakness with only minimal movements of the fingers and toes. Extraocular movements were normal ACTA1 ACTA1 1 1 Kristen Nowak
00106739 Stehlikova et al, 2017 PubMed: Stehlikova et al, 2017 Patient described as having a congenital myopathy and a de novo mutation in ACTA1 F - Czech Republic - - 0 - - MYOP Described as congenital myopathy ACTA1 ACTA1 1 1 Kristen Nowak
00106740 Stehlikova et al, 2017 54 PubMed: Stehlikova et al, 2017 Described as congenital myopathy with de novo ACTA1 mutation F ? Czech Republic - - 0 - - MYOP Described as congenital myopathy with de novo ACTA1 mutation ACTA1 ACTA1 1 1 Kristen Nowak
00107542 - - Patient diagnosed with congenital myopathy. ACTA1 c.529A>G (p.Ile177Val) variant also present in unaffected father with no sign from Sanger sequencing of the variant of mosaicism in the father M - Australia - 00y13m 0 - - MYOP Patient diagnosed with congenital myopathy. First muscle biopsy stated to contain zebra-body like structures, thickened Z lines myofibrillar disorganisation. Second biopsy did not show zebra bodies. Totally asymptomatic father showed same ACTA1 c.529A>G (p.Ile177Val) variant with no sign of mosaicism from Sanger sequencing - ACTA1 1 1 Kristen Nowak
00108193 02178 - - M no France - - 0 - - MYOP idiopathic hyperCKemia (CK 2500-4000) ACTA1 ACTA1 1 1 Mireille Cossee
00108880 ? - - F - United States - - 0 - - MYOP - COL6A3 COL6A3 2 1 Tom Winder
00108882 ? - - - - Canada - - 0 - - MYOP congenital myopathy COL6A3 COL6A3 1 1 Tom Winder
00136966 - PubMed: Beggs, PubMed: Sunohara - M - Japan - - 0 - - MYOP no loss ability to walk (-HP:0006957) DMD DMD 1 1 Johan den Dunnen
00137334 - PubMed: Lee 2012 - F - Korea, South (Republic) - - 0 - - MYOP - DMD DMD 1 1 Johan den Dunnen
00137335 - PubMed: Lee 2012 - F - Korea, South (Republic) - - 0 - - MYOP - DMD DMD 1 1 Johan den Dunnen
00137633 - PubMed: Beggs, PubMed: Sunohara - M - Japan - >32y 0 - - MYOP no loss ability to walk (-HP:0006957) DMD DMD 1 1 Johan den Dunnen
00137715 - PubMed: Beggs, PubMed: Sunohara two affected brothers (onset 5y / 24y) - - Japan - >31y 0 - - BMD, MYOP no loss ability to walk (-HP:0006957) DMD DMD 1 2 Johan den Dunnen
00137731 - PubMed: Beggs, PubMed: Sunohara - M - Japan - >26y 0 - - MYOP elevated serum CPK (HP:0003236); no loss ability to walk (-HP:0006957) DMD DMD 1 1 Johan den Dunnen
00138599 - PubMed: Kumari - M - India - - 0 - - MYOP - DMD DMD 1 1 Johan den Dunnen
00143685 - - - F ? Australia - - 0 - - MYOP - - ACTA1 1 1 Kristen Nowak
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