All individuals with variants in gene CLCN1

626 entries on 7 pages. Showing entries 1 - 100.
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00029638 - - - F no Belgium Caucasian - 0 - - BRGDA, myotonia congenita, autosomal dominant (Thomsen disease) - 1 1 Uschi Peeters
00035246 - - - - - Germany - - 0 - - ? suspected Morbus Thompson or Morbus Becker, Myotonia congenita; MGZ #71205:since childhood initial difficulties after period of rest, stiffness of the tongue 1 1 Andreas Laner
00035247 - - - - - Germany - - 0 - - ? suspected myotonia congenita in early childhood; mother, uncle, aunt and the maternal aunt`s children: clinical diagnosis of myotonia congenita 1 1 Andreas Laner
00035248 - - - - - Germany - - 0 - - ? clinical diagnosis of Myotonia congenita 1 1 Andreas Laner
00035249 - - - - - Germany - - 0 - - ? myotonia (clinical: mild myotonia congenita) 1 1 Andreas Laner
00035250 - - - - - Germany - - 0 - - ? Myotonia congenita Thomsen, muscle stiffness 1 1 Andreas Laner
00035251 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035252 - - - - - Germany - - 0 - - ? myotonia; family history: father could also be affected 1 1 Andreas Laner
00035253 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035254 - - - - - Germany - - 0 - - ? suspected myotonia congenita: since childhood med. muscle stiffness (espec. during pregnancy),Faustöffnungsmyotonie, warm-up phenomena positive ; FA: great-grandparents are brothers and sisters, 1 brother could also be affected 1 1 Andreas Laner
00035255 - - - - - Germany - - 0 - - ? suspected paramyotonia congenita Eulenburg 1 1 Andreas Laner
00035256 - - - - - Germany - - 0 - - myopathy, mitochondrial muscle stiffness and muscle pain 1 1 Andreas Laner
00035257 - - - - - Germany - - 0 - - ? myotonia congenita 1 1 Andreas Laner
00035258 - - - - - Germany - - 0 - - ? genetical HypoPP 1 1 Andreas Laner
00035259 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035260 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035261 - - - - - Germany - - 0 - - ? MGZ #: 43002suspected Chloridchannel-myotonia; MGZ #55791: suspected Myotonia congenita; MGZ #: muscle stiffness, warmup-phenomena, sister has the same symptoms; MGZ #74626: muscle hypertrophy, myotonia 1 1 Andreas Laner
00035262 - - - - - Germany - - 0 - - ? myotonia congenita? 1 1 Andreas Laner
00035263 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035264 - - - - - Germany - - 0 - - ? suspected myotonia congenita Becker; father of index: suspected myotonia 1 1 Andreas Laner
00035265 - - - - - Germany - - 0 - - ? myotonia congenita? 1 1 Andreas Laner
00035266 - - - - - Germany - - 0 - - ? dorsal flexor of the foot-weakness bilateral, stumbling, warming Up phenomena with handshake, walking and climbing stairs 1 1 Andreas Laner
00035267 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035268 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035269 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035270 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035271 - - - - - Germany - - 0 - - ? milde proximal myasthenia, CK 460 U/l, suspected autosomal dominant mode of inheritance; mother, her brothers and sisters and maternal grand-mother were affected 1 1 Andreas Laner
00035272 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035273 - - - - - Germany - - 0 - - ? suspected congenital myotonia, stiffness with initial difficulties to stand up, CK-Increase; development normally 1 1 Andreas Laner
00035274 - - - - - Germany - - 0 - - ? myotonia congenita Thomsen? 1 1 Andreas Laner
00035275 - - - - - Germany - - 0 - - ? suspected congenital myotonia, stiffness with initial difficulties during getting up, CK-Increase; development normally 1 1 Andreas Laner
00035276 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035277 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035278 - - - - - Germany - - 0 - - ? clinically:myotonia (percussion myotonia),mother and maternal grand-mother also affected 1 1 Andreas Laner
00035279 - - - - - Germany - - 0 - - ? suspected myotonia congenita Becker 1 1 Andreas Laner
00035280 - - - - - Germany - - 0 - - ? clinically:myotonia (percussion myotonia),mother and maternal grand-mother also affected 1 1 Andreas Laner
00035281 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035282 - - - - - Germany - - 0 - - ? suspected Von-Hippel-Lindau syndrome, suspected myotonia congenita Thomsen/ Becker,status post renal cell-Ca, 2 brothers and father also affected (myotonia congenita) 1 1 Andreas Laner
00035283 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035284 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035285 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035286 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035287 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035288 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035289 - - - - - Germany - - 0 - - ? MGZ #52450: suspected Becker-myotonia; MGZ #71657: Myotonia congenita Thomsen, muscle stiffness; MGZ #73330: son with myotonia congenita and unclassified variants in the CLCN1 gene; MGZ #65873: suspected myotonia congenita type Thomsen (autosomal-dominant) 1 1 Andreas Laner
00035290 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035291 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035292 - - - - - Germany - - 0 - - ? suspected Becker-myotonia; 1 1 Andreas Laner
00035293 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035294 - - - - - Germany - - 0 - - ? suspected myotonia congenita;family history positive (son), myotonic symptoms, abatement of Mexiletin 1 1 Andreas Laner
00046513 - PubMed: Chen 2013, Journal: Chen 2013 2-generation family, only child of healthy, unrelated parents F no Italy - >26y 0 - - EIG see paper; neurologic phenotype of generalized pharmacoresistant epilepsy with mixed seizure types, mild myotonic features, ... 2 1 Johan den Dunnen
00046514 - PubMed: Modoni 2011, Journal: Modoni 2011 - - - (Italy) - - 0 - - myotonia congenita, autosomal recessive (Becker disease) see paper; transitory depression elictited 3 Hz RNS -57, ... 2 1 Johan den Dunnen
00080752 - - - F yes Morocco - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Muscular hypertrophy. Warm up 1 3 Carmen Palma
00080894 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Myotonia congenita, recessive (OMIM:255700) 1 1 Daniel Trujillano
00081448 - - - M no Spain - - 0 yes - myotonia congenita, autosomal dominant (Thomsen disease) Generalized muscle hypertrophy Myotonia with warm-up phenomenon 1 1 Carmen Palma
00081450 - - - F no Spain - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Myotonia with warm-up phenomenon Muscle stiffness 1 1 Carmen Palma
00081451 - - - M no Spain - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Myotonia with warm-up phenomenonMarked Marked muscular hypertrophy Myotonia EMG: myotonic runs Percussion myotonia 1 1 Carmen Palma
00081452 - - - M no Greece - - 0 yes - myotonia congenita, autosomal recessive (Becker disease) - 3 1 Carmen Palma
00081453 - - - M no Spain - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) - 1 1 Carmen Palma
00081454 - - - M no Spain - - 0 - - myotonia congenita, autosomal recessive (Becker disease) EMG: myotonic runs Myotonia Myotonia with warm-up phenomenon 1 1 Carmen Palma
00111705 - Brugnoni 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111706 - Brugnoni 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111707 - Brugnoni 1999 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00111708 - Chen 2000 It harbors a G-to-T transition at position +1 of the 5' donor splice site of intron 17. - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111709 - Chen 2000 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111710 - Colding-Jörgensen 2003 warm up fenomeen - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen 1 1 Johan den Dunnen
00111711 - Colding-Jorgensen 2003 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111712 - Colding-Jorgensen 2003 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111713 - Colding-Jorgensen 2003 Partialliy dominant - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111714 - Colding-Jorgensen 2003;Grunnet 2003 warm up effect, percussie myotonie - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen 1 1 Johan den Dunnen
00111715 - de Diego 1999 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen 1 1 Johan den Dunnen
00111716 - de Diego 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111717 - de Diego 1999 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00111718 - de Diego 1999 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen 1 1 Johan den Dunnen
00111719 - Deymeer 1998 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00111720 - Deymeer 1998 n.d.; severe ''dystrophic'' phenotpe together with 831 ins g,Pathogenicity debated - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 2 1 Johan den Dunnen
00111721 - Deymeer 1998 ref func:Zhang 2000a Slight shift of po; not dominant - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111722 - Esteban 1998 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111723 - Esteban 1998 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111724 - George 1994 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111725 - George 1994 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111726 - George 1994 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111727 - George 1994; Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111728 - George 1994; Meyer-Kleine 1995 ref func:Zhang 2000a Slight shift of po (15 mv) - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111729 - George 1994; Meyer-Kleine 1995; Koty Slightly dominant negative; altered gating, recification halide block. - - - - - 0 - - ? Thomsen/Becker 1 1 Johan den Dunnen
00111730 - George 1994; Meyer-Kleine 1995; Zhang 1996 ref func:Zhang 2000a 190 mv shift of activation, less degree of deactivation at negative V - - - - - 0 - - ? Thomsen/Becker 1 1 Johan den Dunnen
00111731 - George 1994; Meyer-Kleine 1995; Zhang 1996; Plassart-Schiess 1998; Sangiuolo 1998; Papponen 1999 - - - - - - 0 - - ? Thomsen/Becker 1 1 Johan den Dunnen
00111732 - Heine 1994 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111733 - Heine 1994 - - - - - - 0 - - ? - 1 1 Johan den Dunnen
00111734 - Heine 1994 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111735 - Heine 1994 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111736 - Heine 1994; Meyer-Kleine 1995; Mailander 1996 ref func:Fahlke 1995/ Pusch 1996 Inwardly rectifying - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111737 - Jou 2004 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen? 1 1 Johan den Dunnen
00111738 - Jou 2004 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker? 1 1 Johan den Dunnen
00111739 - Jou 2004 percussie myotonie, variable attacks of muscle stiffness - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111740 - Jou 2004 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker? 1 1 Johan den Dunnen
00111741 - Koch 1992 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111742 - Koch 1992; Koch 1993; Lorenz 1994; Meyer-Kleine 1995; Sloan Brown and George 1997; Papponen 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker 1 1 Johan den Dunnen
00111743 - Kubisch 1998 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00111744 - Kubisch 1998 - - - - - - 0 - - myotonia congenita, autosomal dominant (Thomsen disease) Thomsen 1 1 Johan den Dunnen
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