FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1994599070> ?p ?o ?g. }

• W1994599070 endingPage "398" @default.
• W1994599070 startingPage "392" @default.
• W1994599070 abstract "The autosomal recessive limb-girdle muscular dystrophies (AR-LGMDs) are a heterogeneous group of disorders of progressive weakness of the pelvic and shoulder girdle musculature. The clinical course is characterized by great variability, ranging from severe forms with onset in the first decade and rapid progression resembling clinically Xp21 Duchenne muscular dystrophy (DMD) to milder forms with later onset and slower course. Eight genes are mapped for the AR-LGMDs; they are: LGMD2A (CAPN3) at 15q, LGMD2B (dysferlin) at 2p, LGMD2C (γ-SG) at 13q, LGMD2D (α-SG) at 17q, LGMD2E (β-SG) at 4q, LGMD2F (δ-SG) at 5q, LGMD2G at 17q, and more recently LGMD2H at 9q. The LGMD2F (δ-SG) and LGMD2G genes were mapped in Brazilian AR-LGMD families. Linkage analysis in two unlinked families excluded the eight AR-LGMD genes, indicating that there is at least one more gene responsible for AR-LGMD. We have analyzed 140 patients (from 40 families) affected with one of seven autosomal recessive LGMD loci, that is, from LGMD2A to LGMD2G. The main observations were: 1) all LGMD2E and LGMD2F patients had a severe condition, but considerable inter- and intra-familial clinical variability was observed among patients from all other groups; 2) serum CK activities showed the highest values in LGMD2D (α-SG) patients among sarcoglycanopathies and LGMD2B (dysferlin) patients among nonsarcoglycanopathies; 3) comparison between LGMD2A (CAPN3) and LGMD2B (dysferlin) showed that the first have on average a more severe course and have calf hypertrophy more frequently (86% versus 13%); and 4) inability to walk on toes was observed in approximately 70% of LGMD2B patients. Am. J. Med. Genet. 82:392–398, 1999. © 1999 Wiley-Liss, Inc." @default.
• W1994599070 created "2016-06-24" @default.
• W1994599070 creator A5027062843 @default.
• W1994599070 creator A5033739891 @default.
• W1994599070 creator A5057625052 @default.
• W1994599070 creator A5070788089 @default.
• W1994599070 date "1999-02-19" @default.
• W1994599070 modified "2023-10-12" @default.
• W1994599070 title "Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G" @default.
• W1994599070 cites W1551910894 @default.
• W1994599070 cites W1592698849 @default.
• W1994599070 cites W186828966 @default.
• W1994599070 cites W1965986098 @default.
• W1994599070 cites W1973745622 @default.
• W1994599070 cites W1979853026 @default.
• W1994599070 cites W1980243949 @default.
• W1994599070 cites W1985549125 @default.
• W1994599070 cites W1987789808 @default.
• W1994599070 cites W1992922486 @default.
• W1994599070 cites W2003654592 @default.
• W1994599070 cites W2014509234 @default.
• W1994599070 cites W2017153451 @default.
• W1994599070 cites W2018096072 @default.
• W1994599070 cites W2024993897 @default.
• W1994599070 cites W2025349757 @default.
• W1994599070 cites W2029325863 @default.
• W1994599070 cites W2033491178 @default.
• W1994599070 cites W2042935017 @default.
• W1994599070 cites W2045209184 @default.
• W1994599070 cites W2047149951 @default.
• W1994599070 cites W2049679398 @default.
• W1994599070 cites W2056534595 @default.
• W1994599070 cites W2076042663 @default.
• W1994599070 cites W2081941831 @default.
• W1994599070 cites W2082765051 @default.
• W1994599070 cites W2091317241 @default.
• W1994599070 cites W2094087897 @default.
• W1994599070 cites W2125683839 @default.
• W1994599070 cites W2127966612 @default.
• W1994599070 cites W2130230941 @default.
• W1994599070 cites W2133715827 @default.
• W1994599070 cites W2143464026 @default.
• W1994599070 cites W2143970053 @default.
• W1994599070 cites W2154729967 @default.
• W1994599070 cites W2161779632 @default.
• W1994599070 cites W2161789277 @default.
• W1994599070 cites W2320022870 @default.
• W1994599070 cites W2329473893 @default.
• W1994599070 cites W2340880118 @default.
• W1994599070 doi "https://doi.org/10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0" @default.
• W1994599070 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10069710" @default.
• W1994599070 hasPublicationYear "1999" @default.
• W1994599070 type Work @default.
• W1994599070 sameAs 1994599070 @default.
• W1994599070 citedByCount "94" @default.
• W1994599070 countsByYear W19945990702013 @default.
• W1994599070 countsByYear W19945990702014 @default.
• W1994599070 countsByYear W19945990702015 @default.
• W1994599070 countsByYear W19945990702016 @default.
• W1994599070 countsByYear W19945990702017 @default.
• W1994599070 countsByYear W19945990702018 @default.
• W1994599070 countsByYear W19945990702019 @default.
• W1994599070 countsByYear W19945990702020 @default.
• W1994599070 countsByYear W19945990702021 @default.
• W1994599070 countsByYear W19945990702022 @default.
• W1994599070 countsByYear W19945990702023 @default.
• W1994599070 crossrefType "journal-article" @default.
• W1994599070 hasAuthorship W1994599070A5027062843 @default.
• W1994599070 hasAuthorship W1994599070A5033739891 @default.
• W1994599070 hasAuthorship W1994599070A5057625052 @default.
• W1994599070 hasAuthorship W1994599070A5070788089 @default.
• W1994599070 hasConcept C104317684 @default.
• W1994599070 hasConcept C2778649560 @default.
• W1994599070 hasConcept C2779030066 @default.
• W1994599070 hasConcept C2908647359 @default.
• W1994599070 hasConcept C37113945 @default.
• W1994599070 hasConcept C501734568 @default.
• W1994599070 hasConcept C54355233 @default.
• W1994599070 hasConcept C71924100 @default.
• W1994599070 hasConcept C86803240 @default.
• W1994599070 hasConcept C99454951 @default.
• W1994599070 hasConceptScore W1994599070C104317684 @default.
• W1994599070 hasConceptScore W1994599070C2778649560 @default.
• W1994599070 hasConceptScore W1994599070C2779030066 @default.
• W1994599070 hasConceptScore W1994599070C2908647359 @default.
• W1994599070 hasConceptScore W1994599070C37113945 @default.
• W1994599070 hasConceptScore W1994599070C501734568 @default.
• W1994599070 hasConceptScore W1994599070C54355233 @default.
• W1994599070 hasConceptScore W1994599070C71924100 @default.
• W1994599070 hasConceptScore W1994599070C86803240 @default.
• W1994599070 hasConceptScore W1994599070C99454951 @default.
• W1994599070 hasIssue "5" @default.
• W1994599070 hasLocation W19945990701 @default.
• W1994599070 hasLocation W19945990702 @default.
• W1994599070 hasOpenAccess W1994599070 @default.
• W1994599070 hasPrimaryLocation W19945990701 @default.
• W1994599070 hasRelatedWork W15960594 @default.
• W1994599070 hasRelatedWork W2005326385 @default.

• next