FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3017710698> ?p ?o ?g. }

• W3017710698 endingPage "578" @default.
• W3017710698 startingPage "564" @default.
• W3017710698 abstract "The most common autosomal recessive limb girdle muscular dystrophy is associated with the CAPN3 gene. The exclusively recessive inheritance of this disorder has been recently challenged by the description of the recurrent variants, c.643_663del21 [p.(Ser215_Gly221del)] and c.598_612del15 [p.(Phe200_Leu204del)], associated with autosomal dominant inheritance. Our objective was to confirm the existence of autosomal dominant calpainopathies.Through our activity as one of the reference centres for genetic diagnosis of calpainopathies in France and the resulting collaborations through the French National Network for Rare Neuromuscular Diseases (FILNEMUS), we identified four families harbouring the same CAPN3 heterozygous variant with supposedly autosomal dominant inheritance.We identified a novel dominantly inherited CAPN3 variant, c.1333G>A [p.(Gly445Arg)] in 14 affected patients from four unrelated families. The complementary phenotypic, functional and genetic findings correlate with an autosomal dominant inheritance in these families, emphasizing the existence of this novel transmission mode for calpainopathies. The mild phenotype associated with these autosomal dominant cases widens the phenotypic spectrum of calpainopathies and should therefore be considered in clinical practice.We confirm the existence of autosomal dominant calpainopathies as an entity beyond the cases related to the in-frame deletions c.643_663del21 and c.598_612del15, with the identification of a novel dominantly inherited and well-documented CAPN3 missense variant, c.1333G>A [p.(Gly445Arg)]. In addition to the consequences for genetic counselling, the confirmation of an autosomal dominant transmission mode for calpainopathies underlines the importance of re-assessing other myopathies for which the inheritance is considered as strictly autosomal recessive." @default.
• W3017710698 created "2020-05-01" @default.
• W3017710698 creator A5004146540 @default.
• W3017710698 creator A5007957343 @default.
• W3017710698 creator A5008495980 @default.
• W3017710698 creator A5018913953 @default.
• W3017710698 creator A5042915847 @default.
• W3017710698 creator A5050260475 @default.
• W3017710698 creator A5051214540 @default.
• W3017710698 creator A5053459269 @default.
• W3017710698 creator A5060795663 @default.
• W3017710698 creator A5062724732 @default.
• W3017710698 creator A5063671279 @default.
• W3017710698 creator A5075426698 @default.
• W3017710698 creator A5076760193 @default.
• W3017710698 creator A5079884631 @default.
• W3017710698 creator A5081639226 @default.
• W3017710698 creator A5085167246 @default.
• W3017710698 creator A5085568073 @default.
• W3017710698 creator A5086443939 @default.
• W3017710698 creator A5088897192 @default.
• W3017710698 date "2020-06-10" @default.
• W3017710698 modified "2023-10-16" @default.
• W3017710698 title "Novel <i>CAPN3</i> variant associated with an autosomal dominant calpainopathy" @default.
• W3017710698 cites W1452638885 @default.
• W3017710698 cites W1700813235 @default.
• W3017710698 cites W1967944903 @default.
• W3017710698 cites W1975586830 @default.
• W3017710698 cites W2017492488 @default.
• W3017710698 cites W2024993897 @default.
• W3017710698 cites W2030054492 @default.
• W3017710698 cites W2046727648 @default.
• W3017710698 cites W2051978340 @default.
• W3017710698 cites W2052414875 @default.
• W3017710698 cites W2059600528 @default.
• W3017710698 cites W2059762050 @default.
• W3017710698 cites W2063711843 @default.
• W3017710698 cites W2091196724 @default.
• W3017710698 cites W2091928626 @default.
• W3017710698 cites W2095464027 @default.
• W3017710698 cites W2097942836 @default.
• W3017710698 cites W2119579078 @default.
• W3017710698 cites W2121532618 @default.
• W3017710698 cites W2128699738 @default.
• W3017710698 cites W2135865993 @default.
• W3017710698 cites W2141791829 @default.
• W3017710698 cites W2153517029 @default.
• W3017710698 cites W2159670921 @default.
• W3017710698 cites W2160748450 @default.
• W3017710698 cites W2161188486 @default.
• W3017710698 cites W2309021002 @default.
• W3017710698 cites W2385803741 @default.
• W3017710698 cites W2411398599 @default.
• W3017710698 cites W2546901489 @default.
• W3017710698 cites W2554692627 @default.
• W3017710698 cites W2750944585 @default.
• W3017710698 cites W2770026599 @default.
• W3017710698 cites W2785752848 @default.
• W3017710698 cites W2803489227 @default.
• W3017710698 cites W2803697107 @default.
• W3017710698 cites W2806685556 @default.
• W3017710698 cites W2902198013 @default.
• W3017710698 cites W2904085395 @default.
• W3017710698 cites W2968160389 @default.
• W3017710698 doi "https://doi.org/10.1111/nan.12624" @default.
• W3017710698 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32342993" @default.
• W3017710698 hasPublicationYear "2020" @default.
• W3017710698 type Work @default.
• W3017710698 sameAs 3017710698 @default.
• W3017710698 citedByCount "15" @default.
• W3017710698 countsByYear W30177106982020 @default.
• W3017710698 countsByYear W30177106982021 @default.
• W3017710698 countsByYear W30177106982022 @default.
• W3017710698 countsByYear W30177106982023 @default.
• W3017710698 crossrefType "journal-article" @default.
• W3017710698 hasAuthorship W3017710698A5004146540 @default.
• W3017710698 hasAuthorship W3017710698A5007957343 @default.
• W3017710698 hasAuthorship W3017710698A5008495980 @default.
• W3017710698 hasAuthorship W3017710698A5018913953 @default.
• W3017710698 hasAuthorship W3017710698A5042915847 @default.
• W3017710698 hasAuthorship W3017710698A5050260475 @default.
• W3017710698 hasAuthorship W3017710698A5051214540 @default.
• W3017710698 hasAuthorship W3017710698A5053459269 @default.
• W3017710698 hasAuthorship W3017710698A5060795663 @default.
• W3017710698 hasAuthorship W3017710698A5062724732 @default.
• W3017710698 hasAuthorship W3017710698A5063671279 @default.
• W3017710698 hasAuthorship W3017710698A5075426698 @default.
• W3017710698 hasAuthorship W3017710698A5076760193 @default.
• W3017710698 hasAuthorship W3017710698A5079884631 @default.
• W3017710698 hasAuthorship W3017710698A5081639226 @default.
• W3017710698 hasAuthorship W3017710698A5085167246 @default.
• W3017710698 hasAuthorship W3017710698A5085568073 @default.
• W3017710698 hasAuthorship W3017710698A5086443939 @default.
• W3017710698 hasAuthorship W3017710698A5088897192 @default.
• W3017710698 hasBestOaLocation W30177106982 @default.
• W3017710698 hasConcept C104317684 @default.
• W3017710698 hasConcept C127716648 @default.
• W3017710698 hasConcept C24586158 @default.

• next