scholarly journals Search for new genetic factors associated with the development of hypertrophic cardiomyopathy in the Russian population

2020 ◽  
pp. 6-8
Author(s):  
Е.В. Филатова ◽  
М.И. Шадрина ◽  
И.Н. Власов ◽  
Н.С. Крылова ◽  
М.Ю. Маслова ◽  
...  
Keyword(s):  
Heart Disease ◽  
Hypertrophic Cardiomyopathy ◽  
Genetic Factors ◽  
Autosomal Dominant ◽  
Russian Population ◽  
Dominant Type ◽  
Factors Associated ◽  
Autosomal Dominant Type

Гипертрофическая кардиомиопатия (ГКМП) - самая распространённая форма наследственных заболеваний сердца с преимущественно аутосомно-доминантным типом наследования. Однако до сих пор не выявлены все гены, которые могут быть связаны с патогенезом ГКМП. В связи с этим, целью данной работы стали изучение и поиск новых генетических факторов, связанных развитием ГКМП в российской популяции. Hypertrophic cardiomyopathy (HCM) is the most common form of inherited heart disease with a predominantly autosomal dominant type of inheritance. However, all genes that may be associated with the pathogenesis of HCMP have not yet been identified. In this regard, the aim of this work was to search for new genetic factors associated with the development of HCM in the Russian population.

Limb Girdle Muscular Dystrophy, Autosomal Dominant Type 1C

2009 ◽  
pp. 1179-1180
Author(s):  
Alexander K. C. Leung ◽  
William Lane M. Robson ◽  
Carsten Büning ◽  
Johann Ockenga ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Limb Girdle Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Punctate Calcification Group

2018 ◽  
pp. 351-378
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Chondrodysplasia Punctata ◽  
Limb Defects ◽  
Dominant Type ◽  
Radiographic Features ◽  
Keutel Syndrome ◽  
Punctate Calcification ◽  
Autosomal Dominant Type

This chapter discusses punctate calcification group and related disorders and includes discussion on Greenberg dysplasia, chondrodysplasia punctata Conradi-Hünermann type, CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome, chondrodysplasia punctata (rhizomelic type), chondrodysplasia punctata (brachytelephalangic type), chondrodysplasia punctata (autosomal dominant type), chondrodysplasia punctata (tibia-metacarpal type), and Keutel syndrome. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

An autosomal dominant type of congenital muscular dystrophy

1985 ◽  
Vol 87 (3) ◽  
pp. 232
Author(s):  
Q. Leyten ◽  
F. Gabreëls ◽  
W. Renier ◽  
B. ter Haar ◽  
E. Joosten ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Dominant ◽  
Congenital Muscular Dystrophy ◽  
Dominant Type ◽  
Autosomal Dominant Type

Intracellular and Plasma Magnesium in Familial Hemiplegic Migraine and Migraine With and Without Aura

Cephalalgia ◽  
1994 ◽  
Vol 14 (1) ◽  
pp. 29-32 ◽  
Author(s):  
MC Smeets ◽  
CB Vernooy ◽  
JHM Souverijn ◽  
MD Ferrari
Keyword(s):  
Spreading Depression ◽  
Autosomal Dominant ◽  
Study Groups ◽  
Familial Hemiplegic Migraine ◽  
Hemiplegic Migraine ◽  
Dominant Type ◽  
Intracellular Magnesium ◽  
Migraine Pathophysiology ◽  
Plasma Magnesium ◽  
Autosomal Dominant Type

Familial hemiplegic migraine (FHM) is an autosomal dominant type of migraine and probably represents the most extreme end of migraine with aura. Reduced magnesium facilitates the development of spreading depression and possibly aura. Cellular magnesium levels are under genetic control. We hypothesized that FHM patients would have significantly reduced intracellular magnesium levels. We determined intracellular and plasma magnesium levels in blood of 38 afflicted and 11 non-afflicted members of three families with FHM and, in 32 migraine patients (9 with and 23 without aura) and 32 age and sex matched healthy controls. We found no significant differences between the magnesium levels in the five study groups. We conclude that reduced blood magnesium is unlikely to be related to migraine pathophysiology.

Sign in / Sign up

Export Citation Format

Share Document