Disease #00736 (myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390)

Official abbreviation -
Name myotonia congenita, atypical, acetazolamide-responsive
OMIM ID 608390
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 11
Phenotype entries for this disease 4
Associated with 1 gene SCN4A
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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     
00112924 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, atypical, acetazolamide-responsive Myotonia P SCN4A SCN4A 3 1 Vincent Janmaat
00112966 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, atypical, acetazolamide-responsive Myotonia P SCN4A SCN4A 1 1 Vincent Janmaat
00112988 - Leiden, unpublished - - - Netherlands - - 0 - - myotonia congenita, atypical, acetazolamide-responsive PAM SCN4A SCN4A 3 1 Vincent Janmaat
00275594 - - - M no Italy white - 0 - - myotonia congenita, atypical, acetazolamide-responsive - SCN4A SCN4A 1 5 Raffaella Brugnoni
00275595 - - - F no Italy - - 0 - 1 myotonia congenita, atypical, acetazolamide-responsive - SCN4A SCN4A 1 1 Raffaella Brugnoni
00275596 - - - F no Italy white - 0 - 2 myotonia congenita, atypical, acetazolamide-responsive - SCN4A SCN4A 1 1 Raffaella Brugnoni
00275597 - - - M no Italy - - 0 - 2 myotonia congenita, atypical, acetazolamide-responsive - SCN4A SCN4A 1 1 Raffaella Brugnoni
00275599 - - - F - Italy white - 0 - 2 myotonia congenita, atypical, acetazolamide-responsive - SCN4A SCN4A 1 1 Raffaella Brugnoni
00275600 FamPat PubMed: Maggi 2017 2-generation family, affected female F no Italy - - 0 - - myotonia congenita, atypical, acetazolamide-responsive see paper; ..., occasional episodes of transient lower limb muscle weakness when standing up after prolonged rest, symptoms markedly worsened with cold and improved with exercise CLCN1, SCN4A CLCN1, SCN4A 2 2 Raffaella Brugnoni
00275601 - - - F no Italy - - 0 - 2 myotonia congenita, atypical, acetazolamide-responsive - SCN4A SCN4A 1 1 Raffaella Brugnoni
00275602 - - - F no Italy - - 0 - 2 myotonia congenita, atypical, acetazolamide-responsive - SCN4A SCN4A 1 1 Raffaella Brugnoni
Legend   How to query