Disease #00735 (PMC (paramyotonia congenita of von Eulenburg (PMC)), OMIM:168300)

Official abbreviation PMC
Name paramyotonia congenita of von Eulenburg (PMC)
OMIM ID 168300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 92
Phenotype entries for this disease 91
Associated with 1 gene SCN4A
Associated tissues -
Disease features -
Remarks -


Individuals

92 entries on 1 page. Showing entries 1 - 92.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00029634 - - - F no Belgium Caucasian - 0 - - PMC ndividual has an overlap syndrome paramyotonia congenita combined with sodium channel myotonia SCN4A SCN4A 1 1 Uschi Peeters
00029635 - - - F no Belgium Caucasian - 0 - - PMC - SCN4A SCN4A 1 1 Uschi Peeters
00111761 59317.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 7 1 Johan den Dunnen
00111766 59265.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 9 1 Johan den Dunnen
00111767 67291.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC PMC CLCN1 CLCN1 10 1 Johan den Dunnen
00111768 68467.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 7 1 Johan den Dunnen
00111784 55663.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC PMC CLCN1 CLCN1 2 1 Johan den Dunnen
00111789 57527.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 4 1 Johan den Dunnen
00111790 58141.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 6 1 Johan den Dunnen
00111791 58417.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 1 1 Johan den Dunnen
00111792 60588.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 7 1 Johan den Dunnen
00111793 61487.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 10 1 Johan den Dunnen
00111794 64559.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 3 1 Johan den Dunnen
00111795 69725.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 6 1 Johan den Dunnen
00111796 52152.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 2 1 Johan den Dunnen
00111797 60974.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC Myotonia P CLCN1 CLCN1 15 1 Johan den Dunnen
00111862 62736.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 10 1 Johan den Dunnen
00111863 63794.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 9 1 Johan den Dunnen
00111874 56843.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC PMC CLCN1 CLCN1 2 1 Johan den Dunnen
00111921 60779.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 6 1 Johan den Dunnen
00111922 61212.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 2 1 Johan den Dunnen
00111923 65598.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 2 1 Johan den Dunnen
00111924 64958.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC paramyotonia congenita (OMIM168300) CLCN1 CLCN1 1 1 Johan den Dunnen
00111931 58418.1 Leiden, unpublished - - - Netherlands - - 0 - - PMC PMC CLCN1 CLCN1 7 1 Johan den Dunnen
00112828 - - previous analysis of CLCN1 gene without pathogenic mutation M no Norway - - 0 - - PMC paramyotonia congenita; Congenital Myotonia SCN4A SCN4A 1 1 Angela Abicht
00112831 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 10 1 Vincent Janmaat
00112832 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 10 1 Vincent Janmaat
00112846 - Carle [2006] Treatment with a perfusion of KCl induced full recovery of the skeletal muscle function, and normalization of kalemia within a day. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112847 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 6 1 Vincent Janmaat
00112848 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 5 1 Vincent Janmaat
00112849 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 8 1 Vincent Janmaat
00112856 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112857 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 7 1 Vincent Janmaat
00112858 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 6 1 Vincent Janmaat
00112866 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 6 1 Vincent Janmaat
00112867 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 6 1 Vincent Janmaat
00112890 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112900 - Ptácek [1991] unusually severe interattac weakness - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112905 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112906 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 4 1 Vincent Janmaat
00112907 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 6 1 Vincent Janmaat
00112935 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 5 1 Vincent Janmaat
00112950 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 4 1 Vincent Janmaat
00112953 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 6 1 Vincent Janmaat
00112963 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112964 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112971 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 4 1 Vincent Janmaat
00112975 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 4 1 Vincent Janmaat
00112976 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112978 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112981 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112982 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112983 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112985 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112986 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112987 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112990 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00112991 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112993 - Ptácek [1993] It results in a PC phenotype. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112996 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112997 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00112998 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 2 1 Vincent Janmaat
00112999 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00113000 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113001 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00113003 - McClatchey [1992] Age of onset is 11. Experienced weakness while resting after exercise. During pregnancy these episodes worsened. After birth she develloped hyperkalaemia. After exercise serum potassium levels were elevated and a decline of 91% in the amplitude of the com - - - - - 0 - - PMC - SCN4A SCN4A 2 1 Vincent Janmaat
00113004 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113008 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 2 1 Vincent Janmaat
00113009 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00113010 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00113027 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 3 1 Vincent Janmaat
00113037 - Baquero [1995] - - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113038 - Bulman [1999] A 19-year-old man born to seemingly healthy, unrelated parents experienced a first paralytic attack at age 14. On awakening in the early morning hours, his leg muscles felt tight, achy, and weak so that he could hardly support his weight. On admission to - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113040 - Heine [1993] The mutation causes myotonia aggravated by cold and potassium. The inactivation is disrupted, it has become slower. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113044 - Lane [2004] We speculate that thyroid hormone may exert a threshold or permissive effect in hypokalemic periodic paralysis. Non-thyrotoxic family members of individuals with THypoKPP may have an unrecognized risk for paralysis. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113046 - Plassart [1996] Patient BII4 experienced the first attacks of muscle weakness between ages 2 and 3. Several episodes per week occurred between early childhood and the late thirties. The frequency of attacks then decreased. Two types of paralytic episodes were distinguish - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113057 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113060 - Ferriby [2006] muscle stiffness and occasional flaccid weakness, both symptoms being induced by exercise, cold and heat. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113070 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 2 1 Vincent Janmaat
00113071 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113076 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113077 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113080 - Guo [2004] The mutation V781I exists in Chinese patients with normoKPP and may be responsible for normoKPP - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113083 - Rosenfeld [1997] debelitating pain especially severe in the intercostal muscles. The most severely affected family member responded dramatically to the sodium channel blocking agent flecainide. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113084 - Kim [2004] Incomplete penetrance in women with Arg672Cys mutation was evident. A comparison of the present study with previous studies raises the possibility that hypokalemic periodic paralysis is an allelic-specific or mulfactorial, rather than a gene-specific, dis - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113086 - Trip [2007] All patients noticed aggravation of myotonia at cold temperatures and only one patient reported aggravation after eating potassium rich food. They all used sodium channel blockers (mexiletine 200 mg three times a day, procainamide 1000 mg three times a da - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113087 - Leiden, unpublished - - - Netherlands - - 0 - - PMC - SCN4A SCN4A 2 1 Vincent Janmaat
00113094 - Bendahhou [2001] Treatment with acetazolamide resulted in severe puadripariesis. Probably variable expression within one family - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113096 - Miller [2004] The patient had a combination with the benign known polymorphism S906T, which was found in 4% of healthy controls, and had a classic PC phenotype. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113098 - Rudel [1993] - - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113099 - Sugiura [2000] A 33-year-old man had noticed his first attack of paralysis at age 13. He had experienced grip, leg, and eyelid myotonia since age 25.The patient suffered from heat-induced myotonia and cold-induced paralysis. - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
00113101 - Wang [2006] - - - - - - 0 - - PMC - SCN4A SCN4A 1 1 Vincent Janmaat
Legend   How to query