All individuals with variants in gene CHRNA1

54 entries on 1 page. Showing entries 1 - 54.
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00035215 - - - - - Germany - - 0 - - ? suspected Slow-Channel syndrome, CMS, grandmother, mother and child affected 1 1 Andreas Laner
00035216 - - - - - Germany - - 0 - - ? suspected Slow-Channel syndrome, CMS, grandmother, mother and child affected 1 1 Andreas Laner
00035217 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035218 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035219 - - - - - Germany - - 0 - - ? floppy infant 1 1 Andreas Laner
00152961 - PubMed: Sine 1995, PubMed: Croxen 1997 family, 5 affecteds - - Germany - - 0 - - CMS - 1 5 Johan den Dunnen
00152962 - PubMed: Engel 1996 3-generation family, affected girl/mother/grandmother F - United States - >30y 0 - - CMS 8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood 4 3 Johan den Dunnen
00152963 - PubMed: Croxen 1997 2-generation family, only affected child of 6 M - - - >34y 0 - - CMS facial/neck/upper limb weakness, slight difficulty chewing/swallowing, eye movements normal, wasting forearm/hand muscles, no AChR antibodies, single nerve stimuli did not elicit repetitive compound muscle, action potentials 1 1 Johan den Dunnen
00152964 - PubMed: Chauplannaz 1994 case 2 {PMID07863154:Chauplannaz 1994}, 2-generation family, affected brother and father F - France - >60y 0 - - CMS generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, atrophy cervical muscles, developed respiratory problems (diaphragmatic weakness), deterioration occurred, no AChR antibodies, single nerve stimuli elicited repetitive compound muscle action potentials 1 3 Johan den Dunnen
00152965 - PubMed: Oosterhuis 1987 3-generation family, 1 affected; case 1 {PMID03651795:Oosterhuis 1987} F - Netherlands - >28y 0 - - CMS generalized myasthenic weakness, mild hand muscle wasting, no AChR antibodies, reacted adversely to anticholinesterase drugs; EMG repetitive muscle response single nerve stimulus 1 1 Johan den Dunnen
00152966 - PubMed: Milone 1997 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152967 - PubMed: Wang 1999 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152968 - PubMed: Wang 1999 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152969 - PubMed: Beeson 2003 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152970 - PubMed: Shen 2006 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152971 - PubMed: Michalk 2008 2-generation family, 2 affecteds - - - Africa - 0 - - FADS - 2 2 Johan den Dunnen
00152972 - PubMed: Michalk 2008 4-generation family, 2 affected sibs - - Pakistan - - 0 - - FADS - 2 2 Johan den Dunnen
00152973 - PubMed: Masuda 2008 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152974 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152975 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152976 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152977 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152978 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152979 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152980 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152981 - - - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152982 - PubMed: Giraud 2007 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152983 - PubMed: Masuda 2008 - - - - - - 0 - - CMS - 1 1 Johan den Dunnen
00152984 - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y 0 - - CMS 7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy 1 1 Johan den Dunnen
00152985 - PubMed: Ohno 1996 3-generation family, unaffected carrier parents/son F - Germany - - 0 - - CMS - 2 1 Johan den Dunnen
00152986 - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - 0 - - CMS - 2 2 Johan den Dunnen
00152987 - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - 0 - - CMS - 2 2 Johan den Dunnen
00152988 - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents M - Turkey - >12y 0 - - CMS developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness 4 1 Johan den Dunnen
00152989 - PubMed: Ohno 1999 2-generation family, affected brother/sister, unaffected carrier parents F - Turkey - >14y 0 - - CMS myasthenic symptoms; 14y normal 4 1 Johan den Dunnen
00152990 - PubMed: Ohno 1999 unaffected carrier parents and brother - - Turkey - - 0 - - - - 2 3 Johan den Dunnen
00152991 - PubMed: Chauplannaz 1994 case 1 {PMID07863154:Chauplannaz 1994}, 3-generation family, affected mother F - - - >41y 0 - - CMS generalised weakness (sparing extraocular muscles), prominent wasting/weakness finger extensor muscles, deterioration months after pregnancy, no AChR antibodies AChR, single nerve stimuli elicited repetitive compound muscle action potentials; age onset infancy 1 2 Johan den Dunnen
00152992 - - - - - Germany - - 0 - - CMS phenotype compatible with SCCMS 1 1 Angela Abicht
00152993 - - 2-generation family, 2 affected brothers; family history suggesting autosomal dominant inheritance - - Germany - - 0 - - CMS phenotype compatible with SCCMS 1 2 Angela Abicht
00152994 - PubMed: Sine 1995 - - - Germany - - 0 - - CMS - 1 1 Johan den Dunnen
00152995 - - - - - Germany - - 0 - - CMS - 1 1 Angela Abicht
00152996 - - - - - Germany - - 0 - - CMS - 1 1 Angela Abicht
00152997 - - - - - Germany - - 0 - - CMS - 1 1 Angela Abicht
00152998 - PubMed: Engel 1996 - - - United States - - 0 - - - - 1 27 Johan den Dunnen
00152999 - PubMed: Engel 1996 - - - United States - - 0 - - - - 1 13 Johan den Dunnen
00153000 - PubMed: Ohno 1997, PubMed: Ohno 1999 - - - Turkey - - 0 - - - - 1 37 Johan den Dunnen
00153001 - PubMed: Ohno 1997, PubMed: Ohno 1999 - - - Turkey - - 0 - - - - 1 57 Johan den Dunnen
00153002 - PubMed: Michalk 2008 4-generation family, unaffected carrier parents - yes Pakistan - - 0 - - - - 1 2 Johan den Dunnen
00153003 - PubMed: Michalk 2008 2-generation family, unaffected carrier parents - yes - Africa - 0 - - - - 1 2 Johan den Dunnen
00153010 - - - F - United States - - 0 - - CMS global developmental delay, hypotonia, gait problems, weakness 1 1 Tom Winder
00163650 - - Fetus, TOP 24th GW F no Germany - - 0 yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) 3 1 Florian Erger
00305832 P128 PubMed: Yu 2017 analysis 180 LGMD patients F - China - - 0 - - LGMD moderate (MRC grade 3-4/5); lower limbs more severe than upper limbs; distal weakness; neck flexor weakness (HP:0003722); contractures; elevated serum CK (max. 330 IU/L); biopsy dystrophic; inflammation 1 1 Johan den Dunnen
00306128 60 - - F - China - - - - - CMS1A - 1 1 Sha Hong
00399054 P116 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - 0 - - NMD serum CK normal; muscle biopsy normal; generalized muscle weakness, reported consanguinity 1 1 Johan den Dunnen
00399091 P174 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - NMD serum CK <200 U/L; muscle biopsy yype 1 fiber predominance; arthrogryposis 2 1 Johan den Dunnen
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