All individuals with variants in gene NEFL

62 entries on 1 page. Showing entries 1 - 62.
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00036393 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036394 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036395 - - - - - Germany - - - - - ? suspected HMSN 1 1 Andreas Laner
00207583 - - - F no France - 69y - - - CMT sensori-motor axonal neuropathy and moderate hearing loss 1 1 Justine Lerat
00210525 - - family, 3 affecteds F no Korea, South (Republic) Korean - - - - CMT type 2 1 1 Ki Wha Chung
00210526 - - family, 6 affecteds M no Korea, South (Republic) Korean - - - - CMT intermediate type 1 1 Ki Wha Chung
00210527 - - family, 2 affecteds F no Korea, South (Republic) Korean - - - - CMT type 1 1 1 Ki Wha Chung
00210528 - PubMed: Zuchner 2004 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00210529 - PubMed: Benedetti 2010 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00210530 - PubMed: Jordanova 2003 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210531 - PubMed: Jordanova 2003 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210532 - PubMed: Jordanova 2003 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210533 - PubMed: Jordanova 2003 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210534 - PubMed: Jordanova 2003 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210535 - PubMed: Miltenberger-Miltenyi 2007 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210536 - PubMed: Yoshihara 2002 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00210537 - PubMed: Abe 2009 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00210538 - PubMed: Yoshihara 2002 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00210539 - PubMed: Yum 2009 - - - - - - - - - neuropathy - 1 1 Johan den Dunnen
00210540 - PubMed: Georgiou 2002 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210541 - PubMed: Shin 2008 - - - - - - - - - CMT - 1 1 Johan den Dunnen
00210542 - PubMed: Fabrizi 2007 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210543 - PubMed: Mersiyanova 2000 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00210544 - PubMed: Choi 2004 - - - - - - - - - CMT2 - 1 1 Johan den Dunnen
00219021 28902413-Pat31 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT CMT1F, CMT2E; no family history 1 1 Johan den Dunnen
00219022 28902413-Pat32 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT CMT1F, CMT2E; no family history 1 1 Johan den Dunnen
00219023 28902413-Pat33 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT CMT1F, CMT2E; no family history 1 1 Johan den Dunnen
00219024 28902413-Pat34 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - CMT CMT1F, CMT2E 1 1 Johan den Dunnen
00228245 - - - - - - - - - - - CMT1F - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00263951 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263952 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263953 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263954 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00263955 ? - - - - Spain - - - - - CMT2 - 1 1 Carmen Espinós
00294622 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 51 Mohammed Faruq
00294623 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00300017 Pat-NEFL-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300018 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00300019 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300082 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300083 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300121 Pat-NEFL-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT - 1 1 Johan den Dunnen
00324636 Fam4 PubMed: Lin 2011 2-generation family, 3 affected (F, 2M) F - Taiwan Han Chinese - - - - CMT see paper; ... 1 3 Johan den Dunnen
00324637 Fam5 PubMed: Lin 2011 - M - Taiwan Han Chinese - - - - CMT see paper; ... 1 1 Johan den Dunnen
00324638 Fam6 PubMed: Lin 2011 2-generation family, >3 affected F - Taiwan Han Chinese - - - - CMT see paper; ... 1 4 Johan den Dunnen
00324639 Fam7 PubMed: Lin 2011 2-generation family, >3 affected F - Taiwan Han Chinese - - - - CMT see paper; ... 1 4 Johan den Dunnen
00324640 Fam8 PubMed: Lin 2011 2-generation family, affected brother/sister M - Taiwan Han Chinese - - - - CMT see paper; ... 1 2 Johan den Dunnen
00324641 Fam9 PubMed: Lin 2011 - F - Taiwan Han Chinese - - - - CMT see paper; ... 1 1 Johan den Dunnen
00374415 S-567 PubMed: Ganapathy 2019 - - - India - - - - - ? Motor developmental delay and hypotonia. A nerve conduction velocity test was suggestive of HMSN. 1 1 Johan den Dunnen
00375207 - - - - - - - - - - - CMT1F - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00397139 Pat1 PubMed: Horga 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? United Kingdom (Great Britain) Brittish >40y - - - CMT see paper; motor delay (HP:0001270), finger contractures (HP:0012785), distal upper limb muscle atrophy (HP:0007149), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to mid-forearms/above knees (HP:0007328), vibration sense reduced to left shoulder/costal margins (HP:0002495), position sense reduced to the ankles, marked UL/LL limb ataxia worse with eyes closed (HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), ataxic gait (HP:0002066), pes cavus (HP:0001761); 5y-sensorineural hearing loss (HP:0000407), hearing aids; dysarthria (HP:0001260), mild head tremor (HP:0002346), broken-up smooth pursuits (HP:0007772), tongue hemiatrophy (HP:0100556), mild scoliosis (HP:0002650), scapular winging (HP:0003691); demyelinating neuropathy; absent brainstem auditory evoked potentials; MRI brain mild cerebellar and medullary volume loss; MRI spinal cord mild cervical cord volume loss, ... 1 1 Farina Kemper
00397394 Pat2 PubMed: Horga 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Brittish;Irish >34y - - - CMT see paper; motor delay (HP:0001270), hypotonia (HP:0001252), distal upper limb muscle atrophy (HP:0007149), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to mid-forearms/above knees (HP:0007328), vibration sense reduced to left shoulder/costal margins (HP:0002495), position sense reduced to the ankle/knee, mild UL/LL limb ataxia only with eyes closed (HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), pes cavus (HP:0001761); 8y-sensorineural hearing loss (HP:0000407), hearing aids; dysarthria (HP:0001260), mild head tremor (HP:0002346), broken-up smooth pursuits (HP:0007772), scapular winging (HP:0003691); demyelinating neuropathy; absent right brainstem auditory evoked potentials, abnornal left; MRI brain normal; MRI spinal cord mild cervical cord volume loss; nerves loss or large myelinated fibres, irregularly shaped fibres, thin myelin sheaths, onion bulb, ... 1 1 Farina Kemper
00397502 Pat3 PubMed: Horga 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Austria;Russia - >15y - - - CMT see paper; motor delay (HP:0001270), optic nerve hypoplasia (HP:0000609), distal upper limb muscle atrophy (HP:0007149), distal lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), normal pinprick sensation (-HP:0007328), vibration sense reduced to elbows/ankles (HP:0002495), normal position sense (-HP:0002070), no linm ataxia, no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), ataxic gait (HP:0002066), pes cavus (HP:0001761); 8y-sensorineural hearing loss (HP:0000407), hearing aids; mild hand tremor (HP:0002378), muscle cramps (HP:0003394), urinary incontinence (HP:0000020); demyelinating neuropathy; absent brainstem auditory evoked potentials; ... 1 1 Farina Kemper
00397517 Pat5 PubMed: Horga 2017 2-generation family, 1 affected, unaffected parents M no United Kingdom (Great Britain) Brittish >76y - - - CMT1F see paper; unsteady gait (HP:0002317), tremor hands (HP:0002378), muscle atrophy hands (HP:0008948), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to above ankles (HP:0007328), vibration sense reduced to knees (HP:0002495), position sense reduced to ankles (HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), stamping gait, ataxic gait (HP:0002066), no pes cavus (-HP:0001761); mild head tremor (HP:0002346), thickened ulnar nerve; neuropathy with axonal and demyelinating features (HP:0009830); MRI brain normal; MRI spinal cord normal, ... 1 1 Farina Kemper
00397665 Pat4 PubMed: Horga 2017 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) Brittish - - - - CMT see paper; unsteady gait (HP:0002317), tremor hands (HP:0002378), restless legs (HP:0012452), atrophy hands (HP:0008948), lower limb muscular atrophy (HP:0008944), upper limb muscle weakness (HP:0003484), lower limb muscle weakness (HP:0007340); no deep tendon reflexes (HP:0001284), pinprick sensation reduced to wrists/knees (HP:0007328), vibration sense reduced to elbows/costal margins (HP:0002495), normal position sense (-HP:0002070), no pyramidal signs (-HP:0007256), positive Romberg sign (HP:0002403), steppage gait (HP:0003376), pes cavus (HP:0001761); subclinical high frequency sensorineural hearing loss (HP:0000407), mild head tremor (HP:0002346), mild tremor upper limbs, mild broken-up smooth pursuits, periodic limb movements disorder; neuropathy with axonal and demyelinating features (HP:0009830); normal brainstem auditory evoked potentials; MRI brain normal; MRI spinal cord normal, loss of large myelinated fibres, irregularly shaped fibres, regeneration clusters, ... 1 1 Johan den Dunnen
00398808 FamPat1 PubMed: Machado 2019 5-generation family, 2 affected females (mother and daughter) F yes Portugal Portugal >68y - - - CMT see paper; Gait ataxia (HP:0002066), Positive Romberg sign (HP:0002403), Impaired tactile sensation (HP:0010830), Impaired pain sensation (HP:0007328), Impaired vibratory sensation (HP:0002495) 1 2 Farina Kemper
00398809 FamPat2 PubMed: Machado 2019 daughter F no Portugal Portugal >47y - - - CMT see paper; Steppage gait (HP:0003376), Hammertoe (HP:0001765), Lower limb muscle weakness (HP:0007340), No pyramidal signs (-HP:0010830), No pyramidal signs (-HP:0007328), Impaired vibration sensation in the lower limbs (HP:0002166) 1 1 Farina Kemper
00398853 patient PubMed: Fu 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/ F yes China China - - - - CMT see paper; Distal lower limb muscle weakness (HP:0009053), Distal upper limb muscle weakness (HP:0008959), Distal upper limb amyotrophy (HP:0007149), Distal lower limb amyotrophy (HP:0008944), Foot dorsiflexor weakness (HP:0009027), Talipes equinovarus (HP:0001762), Pes cavus (HP:0001761), Achilles tendon contracture (HP:0001771), Areflexia (HP:0001284), No pyramidal signs (-HP:0007328), No pyramidal signs (-HP:0002495) 1 1 Farina Kemper
00405095 - - family, affected proband, father and brother M - Egypt - - - - - CMT 36-y male with progressive weakness and wasting of both upper and lower limbs 1 3 Sherifa Ahmed Hamed
00408698 Pat52 PubMed: Thomas 2022 no family history - no France - - - - - ? - 1 1 Johan den Dunnen
00408953 XIX PubMed: Lerat-2019 - F - France French - - - - retinal disease moderate hearing loss 1 1 LOVD
00408955 XXI PubMed: Lerat-2019 - F - France French - - - - retinal disease moderate hearing loss 1 1 LOVD
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