All individuals with variants in gene HSPB1

91 entries on 1 page. Showing entries 1 - 91.
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00035949 - - - - - Germany - - - - - ? since youth increasing atrophy of lower legs, Pes equinovarus, atrophy of hand muscles 1 1 Andreas Laner
00035950 - - - - - Germany - - - - - ? hereditäre Neuropathie 1 1 Andreas Laner
00035951 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035952 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00056452 - PubMed: Houlden 2008 2-geenration family, affected boy and possibly affected, deceased mother M no United Kingdom (Great Britain) - - - - - CMT2 see paper; ... 1 1 Johan den Dunnen
00056453 - PubMed: James 2008 - - no United Kingdom (Great Britain) - - - - - HMN Neuropathy, distal hereditary motor 1 1 Johan den Dunnen
00056454 - PubMed: Houlden 2008 2-generation family, 1 affected, unaffected heterozygous carrier parent/sister M yes Pakistan - - - - - CMT2 see paper; ... 1 1 Johan den Dunnen
00056455 - PubMed: Evgrafov 2004 - ? no Belgium - - - - - HMN Neuropathy, distal hereditary motor 1 1 Johan den Dunnen
00056456 - PubMed: Benedetti 2010 2-generation family, affected mother daugther F no Italy - - - - - CMT2 Charcot-Marie-Tooth disease 2; see paper ... 1 2 Johan den Dunnen
00056457 - PubMed: Evgrafov 2004 6-generation family, 18 affecteds (8F, 10M) F;M no Russian Federation - - - - - CMT2F progressive symmetrical weakness, atrophy distal limb muscles initially involving legs particularly peroneal muscles, depressed or absent tendon reflexes, mild/moderate distal sensory abnormalities; age onset 15–25y 1 18 Johan den Dunnen
00056458 - PubMed: Evgrafov 2004 - - no Belgium - - - - - CMT2F Charcot-Marie-Tooth disease, axonal, type 2F 1 1 Johan den Dunnen
00056459 - PubMed: Houlden 2008 4-generation family, affected father/son M - India - - - - - CMT2 see paper; ... 1 2 Johan den Dunnen
00056460 - PubMed: Ikeda 2009 3-generation family, 3 affected males M no Japan - - - - - HMN2 see paper; ... 1 3 Johan den Dunnen
00056461 - PubMed: Evgrafov 2004 4-generation family, 4 afffecteds (F, 3M) F;M no Croatia (Hrvatska) - - - - - HMN neuropathy, distal hereditary motor 1 4 Johan den Dunnen
00056462 - PubMed: Mandich 2010 2-generation family, affected father/son M no Italy - - - - - neuropathy, peripheral peripheral neuropathy, early-onset 1 2 Johan den Dunnen
00056463 - PubMed: Luigetti 2010 - F no Italy - >19y - - - CMT2 see paper; wasting and weakness distal muscles, primarily/mostly lower limbs and later upper limbs, ... 1 1 Johan den Dunnen
00056464 - PubMed: Kijima 2005 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - - - HMN Neuropathy, distal hereditary motor 1 1 Johan den Dunnen
00056465 - PubMed: Evgrafov 2004 2-generation family, affected father and brother/sister F;M no Austria - - - - - HMN neuropathy, distal hereditary motor 1 3 Johan den Dunnen
00056496 - PubMed: Evgrafov 2004 - - no - Russian Federation - - - - CMT2 - 1 1 Johan den Dunnen
00056497 - PubMed: Evgrafov 2004 - - no - Russian Federation - - - - CMT2 - 1 1 Johan den Dunnen
00056498 - PubMed: Evgrafov 2004 - - no - Russian Federation - - - - CMT2 - 1 1 Johan den Dunnen
00056499 - PubMed: Evgrafov 2004 - - no - Russian Federation - - - - CMT2 - 1 1 Johan den Dunnen
00056500 - PubMed: Evgrafov 2004 - - no - United Kingdom (Great Britain) - - - - HMN distal hereditary motor neuropathy 1 1 Johan den Dunnen
00057162 - PubMed: Benedetti 2010 - M no Italy - >47y - - - CMT2 see paper; ... 1 1 Johan den Dunnen
00057163 - PubMed: Benedetti 2010 - F no Italy - >52y - - - CMT2 see paper; ... 1 1 Johan den Dunnen
00057165 - PubMed: Kijima 2005 - - - Japan - - - - - HMN - 1 1 Johan den Dunnen
00057166 - PubMed: Kijima 2005 - - - Japan - - - - - HMN - 1 1 Johan den Dunnen
00057167 - PubMed: Kijima 2005 - - - Japan - - - - - HMN - 1 1 Johan den Dunnen
00057168 - PubMed: Houlden 2008 9-generation family, 49 affecteds M;F no United Kingdom (Great Britain) - - - - - CMT2 see paper; ... 1 49 Johan den Dunnen
00057169 - PubMed: Houlden 2008 2-geenration family, 2 affected brothers and possibly affected, deceased father M no United Kingdom (Great Britain) - - - - - CMT2 see paper; ... 1 2 Johan den Dunnen
00057170 - PubMed: Houlden 2008 2-generation family, 1 affected, untested parents M no India - - - - - CMT2 see paper; ... 1 1 Johan den Dunnen
00057171 - PubMed: Houlden 2008 2-generation family, 1 affected, untested parents M no India - - - - - CMT2 see paper; ... 1 1 Johan den Dunnen
00074532 - - - - - - - - - - - ALS - 1 1 Simona Capponi
00074533 - - - - - - - - - - - ALS - 1 1 Simona Capponi
00208779 - - - M - Germany - - - - - - HP:0001288 (Gait disturbance); HP:0100022 (Abnormality of movement); HP:0007178 (Motor polyneuropathy); HP:0000759 (Abnormal peripheral nervous system morphology) 1 1 Andreas Laner
00218996 28902413-Pat6 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT CMT2F 1 1 Johan den Dunnen
00218997 28902413-Pat7 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT CMT2F 1 1 Johan den Dunnen
00263932 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00296674 - - - M - - - - - - - ? Abnormality of nervous system morphology (HP:0012639); Abnormal nerve conduction velocity (HP:0040129); Abnormality of the nervous system (HP:0000707); Sensorimotor neuropathy (HP:0007141) 1 1 Andreas Laner
00299999 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300000 Pat-HSPB1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300001 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300061 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300062 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300117 Pat-HSPB1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00314334 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00324634 Fam2 PubMed: Lin 2011 3-generation family, 3 affected (F, 2M) M - Taiwan Han Chinese - - - - CMT see paper; ... 1 3 Johan den Dunnen
00359003 176829 - - M ? Germany - - - - - CMT2F Myalgias, weakness and CK elevation (up to max 3000 U/L), marked calf hypertrophy, negative family history, EMG: pSA and myopathic, muscular biopsy: necrosis and small inflammatory infiltrates (therapy with cortisone, AZA, MTX unsuccessful), / (+) Myopathy,(+) Myalgia,(+) EMG abnormality,(+) EMG: myopathic abnormalities,(+) Necrotizing myopathy,(+) Abnormal skeletal muscle morphology,(+) Pain 1 1 Andreas Laner
00359273 F1 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement 1 2 Johan den Dunnen
00359274 F1 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359275 F2 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL+UL; proximal weakness LL; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359276 F3 PubMed: Echaniz-Laguna 2017 - - - Cote D'Ivoire (Ivory Coast) - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; cerebellar ataxia 1 1 Johan den Dunnen
00359277 F4 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement 1 2 Johan den Dunnen
00359278 F4 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359279 F5 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; proximal weakness LL; spasticity lower legs; sensory involvement LL; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359280 F6 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359281 F7 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; Spasticity 1 1 Johan den Dunnen
00359282 F8 PubMed: Echaniz-Laguna 2017 - - - Algeria - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359283 F9 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 550 (U/L) 1 1 Johan den Dunnen
00359284 F10 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359285 F11 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL+UL; proximal weakness LL; spasticity lower legs; no sensory involvement; no pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359286 F12 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359287 F13 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; Spasticity 1 1 Johan den Dunnen
00359288 F14 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359289 F15 PubMed: Echaniz-Laguna 2017 - - - England - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359290 F16 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 2 Johan den Dunnen
00359291 F16 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359292 F17 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359293 F18 PubMed: Echaniz-Laguna 2017 family, 2 affected - - Italy - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 2 Johan den Dunnen
00359294 F18 PubMed: Echaniz-Laguna 2017 - - - Italy - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359295 F19 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; no pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359296 F20 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359297 F21 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; CK level 300 (U/L); feet paresthesia 1 1 Johan den Dunnen
00359298 F22 PubMed: Echaniz-Laguna 2017 - - - Algeria - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359299 F23 PubMed: Echaniz-Laguna 2017 family, 2 affected - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 2 Johan den Dunnen
00359300 F23 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00359301 F24 PubMed: Echaniz-Laguna 2017 - - - Algeria - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement; CK level 300 (U/L) 1 1 Johan den Dunnen
00359302 F25 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; no sensory involvement; pes cavus; Spasticity; CK level 220 (U/L); spasticity lower legs 1 1 Johan den Dunnen
00359303 F26 PubMed: Echaniz-Laguna 2017 - - - Armenia - - - - - HMN see paper; ..., distal weakness LL+UL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359304 F27 PubMed: Echaniz-Laguna 2017 family, 6 affected - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 6 Johan den Dunnen
00359305 F27 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359306 F27 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; proximal weakness LL; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359307 F27 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359308 F27 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL+UL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359309 F27 PubMed: Echaniz-Laguna 2017 - - - France - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; sensory involvement LL; pes cavus; no CNS involvement; feet paresthesia 1 1 Johan den Dunnen
00359310 F28 PubMed: Echaniz-Laguna 2017 - - - Portugal - - - - - HMN see paper; ..., distal weakness LL; no proximal weakness; no sensory involvement; pes cavus; no CNS involvement 1 1 Johan den Dunnen
00374755 S-1196 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374756 S-5303 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00398497 402 PubMed: Ferese 2021 2-generation family, 1 affected, unaffected parents F - Italy - >76y - - - CMT Joint laxity (HP:0001388), Gait disturbance (HP:0001288), Foot dorsiflexor weakness (HP:0009027), Peripheral neuropathy (HP:0009830), No decreased nerve conduction velocity (-HP:0000762) 1 1 Yvet den Hartog
00435111 - - - ? - Germany - - - - - HMSN - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00466208 340342 - - F no Germany - - - - - CMT2F Fatigable weakness 1 1 Andreas Laner
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