Disease #01961 (myotonia congenita, autosomal recessive (Becker disease), OMIM:255700)

Official abbreviation -
Name myotonia congenita, autosomal recessive (Becker disease)
OMIM ID 255700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 96
Phenotype entries for this disease 95
Associated with 1 gene CLCN1
Associated tissues -
Disease features -
Remarks -


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96 entries on 1 page. Showing entries 1 - 96.
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00046514 - PubMed: Modoni 2011, Journal: Modoni 2011 - - - (Italy) - - 0 - - myotonia congenita, autosomal recessive (Becker disease) see paper; transitory depression elictited 3 Hz RNS -57, ... CLCN1 CLCN1 2 1 Johan den Dunnen
00080752 - - - F yes Morocco - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Muscular hypertrophy. Warm up CLCN1 CLCN1 1 3 Carmen Palma
00080894 - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Myotonia congenita, recessive (OMIM:255700) CLCN1 CLCN1 1 1 Daniel Trujillano
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 CLCN1 CLCN1 1 1 Carmen Palma
00081452 - - - M no Greece - - 0 yes - myotonia congenita, autosomal recessive (Becker disease) - CLCN1 CLCN1 3 1 Carmen Palma
00081454 - - - M no Spain - - 0 - - myotonia congenita, autosomal recessive (Becker disease) EMG: myotonic runs Myotonia Myotonia with warm-up phenomenon CLCN1 CLCN1 1 1 Carmen Palma
00111705 - Brugnoni 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111706 - Brugnoni 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 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 CLCN1 CLCN1 1 1 Johan den Dunnen
00111709 - Chen 2000 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111713 - Colding-Jorgensen 2003 Partialliy dominant - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111716 - de Diego 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 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 CLCN1 CLCN1 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 CLCN1 CLCN1 1 1 Johan den Dunnen
00111722 - Esteban 1998 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111727 - George 1994; Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 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 CLCN1 CLCN1 1 1 Johan den Dunnen
00111734 - Heine 1994 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 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 CLCN1 CLCN1 1 1 Johan den Dunnen
00111738 - Jou 2004 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker? CLCN1 CLCN1 1 1 Johan den Dunnen
00111740 - Jou 2004 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker? CLCN1 CLCN1 1 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 CLCN1 CLCN1 1 1 Johan den Dunnen
00111745 - Kubisch 1998 ref func:Kubisch 1998 recessive shift of po - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111746 - Kubisch 1998 ref func:Kubisch 1998 no expression - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111749 - Laboratory for Diagnostic Genome Analyses Leiden, unpublished - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111765 59606.1 Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 9 1 Johan den Dunnen
00111786 56458.1 Leiden, unpublished - M - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) - CLCN1 CLCN1 8 1 Johan den Dunnen
00111807 58032.1 Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 8 1 Johan den Dunnen
00111812 59606.2 Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 4 1 Johan den Dunnen
00111872 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111873 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111884 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111891 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111907 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111908 57983.1 Leiden, unpublished - F - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 4 2 Johan den Dunnen
00111911 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111914 58741.2 Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111915 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111916 53779.1 Leiden, unpublished hom M - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) - CLCN1 CLCN1 1 1 Johan den Dunnen
00111918 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111941 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111943 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111955 - Lorenz 1994; Meyer-Kleine 1994; Lehmann-Horn 1995; Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111956 - Lorenz 1994; Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111957 - Lorenz 1994; Meyer-Kleine 1995 ref func:Pusch 1995b Dominant shift of po - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111958 - Mailander 1996 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111962 - Mailander 1996 ref func:Wollnik 1997 like WT, pathogenicity debated - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Johan den Dunnen
00111964 - Mailander 1996 ref func:Wollnik 1997 like WT, Pathogenicity debated - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111965 - Mailander 1996 ref func:Zhang 2000a Slight shift of po (20mV) - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111968 - Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111971 - Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111973 - Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111975 - Meyer-Kleine 1995 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111979 - Meyer-Kleine 1995 ref func:Lorenz 1994 Presumably nonfunctional - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111980 - Meyer-Kleine 1995 ref func:Pusch 1995b; No functional expression; not dominant negative - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111981 - Meyer-Kleine 1995 ref func:Wollnik 1997 Reduced ''gamma''; altered gating, not dominant negative n.d. - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111982 - Meyer-Kleine 1995 ref func:Zhang 2000a Slight shift of po (15 mv) - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111984 - Meyer-Kleine 1995; Kubisch 1998 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111985 - Nagamitsu 2000 mRNA is degraded - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111989 - Papponen 1999 ref func:Zhang 2000b Inwardly rectifying similar to D136G - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111990 - Plassart-Schiess 1998 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111994 - Plassart-Schiess 1998 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111997 - Sangiuolo 1997 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00111999 - Sangiuolo 1997 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112000 - Sangiuolo 1997 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112002 - Sangiuolo 1997 ref func:Kubisch 1998; Saviane 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112003 - Sangiuolo 1997 ref func:Steinmeyer 1994; Pusch 1995b Ne espression by itself by dominant shift of po - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112007 - Sasaki 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112009 - Sasaki 1999 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112013 - Sejersen 1996 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112024 - Sun 2001 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker? CLCN1 CLCN1 1 1 Johan den Dunnen
00112032 - Sun 2001 warm up effect - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112033 - Sun 2001; Warnstedt 2002 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112035 - Wu 2002 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112040 - Zhang 1996 - - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112042 - Zhang 2000b ref func:Lorenz 1994; Pusch 1995b No functional espression, not dominant negative - - - - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Johan den Dunnen
00112054 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Biecker CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112057 - - - M - Ethiopia - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 3 1 Raffaella Brugnoni
00112064 - - - M - (Peru) - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112072 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112073 - - - F - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112074 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112076 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112077 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112083 - - - F - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112090 - - - M no Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112091 - - - M - (Peru) - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112097 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112098 - - - F - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112124 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112127 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112129 - - - F - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00112131 - - - M - Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 1 1 Raffaella Brugnoni
00112132 - - - M ? Italy - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Becker CLCN1 CLCN1 2 1 Raffaella Brugnoni
00132086 - - - - - Germany - - 0 - - myotonia congenita, autosomal recessive (Becker disease) - CLCN1 CLCN1 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00392563 188465 - - M no Germany - - 0 - - myotonia congenita, autosomal recessive (Becker disease) Myopathy, Skeletal muscle hypertrophy, Global developmental delay, Delayed speech and language development, Abnormality of the neck, Myotonia with warm-up phenomenon; Climbing stairs difficult possible up stairs, down stairs much better, no muscle weakness, warm up phenomenon, jaw and tongue muscles also affected, low hairline, broad neck, below average learning and performance abilities, speech disorder, CK normal. CLCN1 CLCN1 2 1 Andreas Laner
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