All individuals with variants in gene MATR3

34 entries on 1 page. Showing entries 1 - 34.
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00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00151565 25771394-Pat PubMed: Lin 2015, Journal: Lin 2015 - - - Taiwan Chinese, Han - - - - ALS - 1 1 Johan den Dunnen
00151567 25771394-Pat PubMed: Lin 2015, Journal: Lin 2015 - - - Taiwan Chinese, Han - - - - ALS - 1 1 Johan den Dunnen
00151568 25771394-Pat PubMed: Lin 2015, Journal: Lin 2015 - - - Taiwan Chinese, Han - - - - ALS - 1 1 Johan den Dunnen
00210058 09837826-Fam PubMed: Feit 1998 5-generation family, 47 affecteds - - United States white - - - - ALS - 2 35 Johan den Dunnen
00210059 09837826-IV.2 PubMed: Feit 1998 from large family M - United States white >56y - - - ALS weakness leg L>R, R hand R=L, shoulder R>L; EMG-myopathy, nerve conduction velocity normal, rimmed vacuoles, central nuclei; raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210060 09837826-IV.4 PubMed: Feit 1998 from large family M - United States white >48y - - - ALS weakness hand R>L, leg R=L, shoulder >L; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210061 09837826-IV.6 PubMed: Feit 1998 from large family M - United States white >65y - - - ALS weakness leg L>R; EMG-distal denervation, nerve conduction velocity normal, rimmed vacuoles, atrophy; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210062 09837826-IV.12 PubMed: Feit 1998 from large family M - United States white >50y - - - ALS weakness leg R>L, hand R>L; CPK level 1.3x 1 1 Johan den Dunnen
00210063 09837826-IV.52 PubMed: Feit 1998 from large family M - United States white >60y - - - ALS weakness leg R>L, hand L>R; EMG-neuropathy, nerve conduction velocity slow, ; raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210064 09837826-IV.38 PubMed: Feit 1998 from large family F - United States white >72y - - - ALS weakness hands, legs, shoulder R>L; EMG-myopathy, nerve conduction velocity borderline slow, end-stage myopathy; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210065 09837826-V.12 PubMed: Feit 1998 from large family M - United States white >51y - - - ALS weakness legs, hand R=L; EMG-myopathy, nerve conduction velocity slow, rimmed vacuoles, thin myelin; raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210066 09837826-V.13 PubMed: Feit 1998 from large family M - United States white >42y - - - ALS weakness legs R=L, hand R; EMG-neuropathy, rimmed vacuoles, central nuclei; raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210067 09837826-V.14 PubMed: Feit 1998 from large family F - United States white >58y - - - ALS weakness hands = legs; EMG-myopathy, nerve conduction velocity normal, rimmed vacuoles, central nuclei 1 1 Johan den Dunnen
00210068 09837826-V.17 PubMed: Feit 1998 from large family M - United States white >52y - - - ALS weakness leg L>R, hand R=L, shoulder R=L; raised CPK level (HP:0003236) 2x 1 1 Johan den Dunnen
00210069 09837826-V.18 PubMed: Feit 1998 from large family M - United States white >50y - - - ALS weakness legs R>L; raised CPK level (HP:0003236) 8x 1 1 Johan den Dunnen
00210070 09837826-V.19 PubMed: Feit 1998 from large family F - United States white >47y - - - ALS weakness hands, legs; no raised CPK level (-HP:0003236) normal 1 1 Johan den Dunnen
00210071 19344878-DM73.3 PubMed: Senderek 2009, OMIM:var0001 - - - United States white - - - - ALS weakness hands, legs; no swallowing dysfunction; raised CPK level (HP:0003236) 2× 1 1 Johan den Dunnen
00210072 19344878-DM73.4 PubMed: Senderek 2009, OMIM:var0001 - - - United States white - - - - ALS weakness hands, legs; swallowing dysfunction; raised CPK level (HP:0003236) 2× 1 1 Johan den Dunnen
00210073 19344878-FamBG PubMed: Senderek 2009, OMIM:var0001 7-generation family, 19 affecteds - - Bulgaria - - - - - ALS - 3 9 Johan den Dunnen
00210074 19344878-IV.9 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands, legs; no swallowing dysfunction 1 1 Johan den Dunnen
00210075 19344878-V.6 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands, legs, shoulders; swallowing dysfunction 1 1 Johan den Dunnen
00210076 19344878-V.9 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands, legs, shoulders; swallowing dysfunction; raised CPK level (HP:0003236) 2× 1 1 Johan den Dunnen
00210077 19344878-V.11 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands, legs 1 1 Johan den Dunnen
00210078 19344878-V.13 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands, legs 1 1 Johan den Dunnen
00210079 19344878-V.15 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness legs 1 1 Johan den Dunnen
00210080 19344878-V.17 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands 1 1 Johan den Dunnen
00210081 19344878-V.23 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands, legs, shoulders; no swallowing dysfunction; raised CPK level (HP:0003236) 4× 1 1 Johan den Dunnen
00210082 19344878-V.27 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness hands, legs, shoulders; swallowing dysfunction; raised CPK level (HP:0003236) 3× 1 1 Johan den Dunnen
00210083 19344878-V.30 PubMed: Senderek 2009, OMIM:var0001 - - - Bulgaria - - - - - ALS weakness legs; raised CPK level (HP:0003236) 2× 1 1 Johan den Dunnen
00293760 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 53 Mohammed Faruq
00295747 - - - ? - - - - - - - ? Abnormal insertion of umbilical cord (HP:0011418); Abnormality of prenatal development or birth (HP:0001197); Bilateral talipes equinovarus (HP:0001776) 1 1 Andreas Laner
00305014 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00314363 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
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