FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2016857295> ?p ?o ?g. }

• W2016857295 abstract "Abstract 1.1. Hereditary muscular diseases can best be studied in large family groups in which the variety of expressions of the same gene can be identified. Extending examinations by physicians to greater numbers of individuals in kindreds being studied will also add much to our understanding of these diseases and our knowledge of the pattern of their inheritance. 2.2. Progressive muscular dystrophy is perhaps the most important and best known group of muscular disorders. 3.3. Most cases of progressive muscular dystrophy can be classified into two general groups, the facioscapulohumeral type and the childhood type. Each of these is inherited as a separate genetic entity following a different pattern of inheritance. 4.4. Facioscapulohumeral progressive muscular dystrophy varies in its form of expression. Its age of onset is usually between seven and twenty years. It is inherited as an autosomal dominant. 5.5. Childhood progressive muscular dystrophy differs from facioscapulohumeral muscular dystrophy both in its mode of inheritance and in its pattern of expression. The age of onset is usually about three years. There is good evidence that it is inherited as a sex-linked recessive trait. 6.6. The gene producing childhood muscular dystrophy has a high mutation rate. Its minimum mutation rate is roughly estimated at one in 10,000 (approximately 1 × 10 −5 ). 7.7. Three types of myotonia are discussed, myotonia congenita (Thomsen's Disease), paramyotonia and myotonia dystrophica. 8.8. Myotonia congenita is not a common disease. It is congenital or can be identified at a very early age. It is inherited as an autosomal dominant. 9.9. Paramyotonia is a rare disease. It is expressed as an immobility of the muscles brought on by cold. It can be detected when a child is but a few months old and is inherited as an autosomal dominant. 10.10. Myotonia dystrophica is the most common as well as the most severe form of the myotonias. It is inherited as an autosomal dominant with a wide variability of expression. 11.11. It is evident that all cases of family periodic paralysis described in the literature are not due to the same mutation. In the kindred studied at the University of Utah the defect was inherited as an autosomal dominant. 12.12. Since the traits described as being due to autosomal dominant genes have not occurred in the homozygous condition it cannot be determined whether or not dominance is complete or what the expression of the homozygoteis Table II Statistical, Comparison of data on kindred with periodic paralysis with the theoretic behavior of a dominant trait∗PhenotypesObservedCalculatedDeviationStandard ErrorD/SENormal (pp)363424.12485Affected (Pp)32342Total6868∗From Tyler, Stephens, Gunn and Perkoff, J. Clin. Investigation, 1951." @default.
• W2016857295 created "2016-06-24" @default.
• W2016857295 creator A5045099228 @default.
• W2016857295 date "1953-10-01" @default.
• W2016857295 modified "2023-09-24" @default.
• W2016857295 title "Inheritance of diseases primary in the muscles" @default.
• W2016857295 cites W1502062771 @default.
• W2016857295 cites W1535625480 @default.
• W2016857295 cites W1559630017 @default.
• W2016857295 cites W1603245236 @default.
• W2016857295 cites W1682295403 @default.
• W2016857295 cites W1914872457 @default.
• W2016857295 cites W1963915167 @default.
• W2016857295 cites W1977734276 @default.
• W2016857295 cites W1981578816 @default.
• W2016857295 cites W1986121688 @default.
• W2016857295 cites W2019890571 @default.
• W2016857295 cites W2020598623 @default.
• W2016857295 cites W2021237768 @default.
• W2016857295 cites W2025747978 @default.
• W2016857295 cites W2043820592 @default.
• W2016857295 cites W2049775882 @default.
• W2016857295 cites W2051996535 @default.
• W2016857295 cites W2060346747 @default.
• W2016857295 cites W2067943946 @default.
• W2016857295 cites W2083313039 @default.
• W2016857295 cites W2092565996 @default.
• W2016857295 cites W2092641460 @default.
• W2016857295 cites W2108710752 @default.
• W2016857295 cites W2214124715 @default.
• W2016857295 cites W2249562697 @default.
• W2016857295 cites W2313253316 @default.
• W2016857295 cites W2316954594 @default.
• W2016857295 cites W2978955936 @default.
• W2016857295 cites W76368367 @default.
• W2016857295 cites W8898209 @default.
• W2016857295 cites W2288633189 @default.
• W2016857295 doi "https://doi.org/10.1016/0002-9343(53)90144-2" @default.
• W2016857295 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/13092123" @default.
• W2016857295 hasPublicationYear "1953" @default.
• W2016857295 type Work @default.
• W2016857295 sameAs 2016857295 @default.
• W2016857295 citedByCount "4" @default.
• W2016857295 crossrefType "journal-article" @default.
• W2016857295 hasAuthorship W2016857295A5045099228 @default.
• W2016857295 hasConcept C104317684 @default.
• W2016857295 hasConcept C126322002 @default.
• W2016857295 hasConcept C142724271 @default.
• W2016857295 hasConcept C187212893 @default.
• W2016857295 hasConcept C2776767690 @default.
• W2016857295 hasConcept C2777767895 @default.
• W2016857295 hasConcept C2778063965 @default.
• W2016857295 hasConcept C2779030066 @default.
• W2016857295 hasConcept C2779134260 @default.
• W2016857295 hasConcept C2779981540 @default.
• W2016857295 hasConcept C2780304057 @default.
• W2016857295 hasConcept C3020341036 @default.
• W2016857295 hasConcept C54355233 @default.
• W2016857295 hasConcept C71924100 @default.
• W2016857295 hasConcept C86803240 @default.
• W2016857295 hasConceptScore W2016857295C104317684 @default.
• W2016857295 hasConceptScore W2016857295C126322002 @default.
• W2016857295 hasConceptScore W2016857295C142724271 @default.
• W2016857295 hasConceptScore W2016857295C187212893 @default.
• W2016857295 hasConceptScore W2016857295C2776767690 @default.
• W2016857295 hasConceptScore W2016857295C2777767895 @default.
• W2016857295 hasConceptScore W2016857295C2778063965 @default.
• W2016857295 hasConceptScore W2016857295C2779030066 @default.
• W2016857295 hasConceptScore W2016857295C2779134260 @default.
• W2016857295 hasConceptScore W2016857295C2779981540 @default.
• W2016857295 hasConceptScore W2016857295C2780304057 @default.
• W2016857295 hasConceptScore W2016857295C3020341036 @default.
• W2016857295 hasConceptScore W2016857295C54355233 @default.
• W2016857295 hasConceptScore W2016857295C71924100 @default.
• W2016857295 hasConceptScore W2016857295C86803240 @default.
• W2016857295 hasLocation W20168572951 @default.
• W2016857295 hasLocation W20168572952 @default.
• W2016857295 hasOpenAccess W2016857295 @default.
• W2016857295 hasPrimaryLocation W20168572951 @default.
• W2016857295 hasRelatedWork W1511162770 @default.
• W2016857295 hasRelatedWork W1600749968 @default.
• W2016857295 hasRelatedWork W1685724367 @default.
• W2016857295 hasRelatedWork W1994201543 @default.
• W2016857295 hasRelatedWork W1996824038 @default.
• W2016857295 hasRelatedWork W2021735341 @default.
• W2016857295 hasRelatedWork W2048717086 @default.
• W2016857295 hasRelatedWork W2051987320 @default.
• W2016857295 hasRelatedWork W2064966900 @default.
• W2016857295 hasRelatedWork W2067782615 @default.
• W2016857295 hasRelatedWork W2076449248 @default.
• W2016857295 hasRelatedWork W2076459990 @default.
• W2016857295 hasRelatedWork W2108659035 @default.
• W2016857295 hasRelatedWork W2109122998 @default.
• W2016857295 hasRelatedWork W2124118254 @default.
• W2016857295 hasRelatedWork W2342384069 @default.
• W2016857295 hasRelatedWork W2364013729 @default.
• W2016857295 hasRelatedWork W2393649824 @default.
• W2016857295 hasRelatedWork W2396311088 @default.
• W2016857295 hasRelatedWork W2433011625 @default.
• W2016857295 isParatext "false" @default.

• next