Literature DB >> 2193159

Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome).

N D Carter1, J E Morgan, A P Monaco, M S Schwartz, S Jeffery.   

Abstract

DNA extraction and Southern blot analysis of two cases of McLeod's syndrome showed restriction fragments identical to normal controls using probes from the Xp21 (1-2) region, in contrast to striking deletions found in two other McLeod phenotypes studied in the USA. The McLeod locus is adjacent to Duchenne muscular dystrophy (DMD) and dystrophin immunocytochemistry showed that expression is normal in muscle from the two McLeod cases in spite of the mild DMD-like myopathy.

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Year:  1990        PMID： 2193159      PMCID： PMC1017128          DOI： 10.1136/jmg.27.6.345

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Biochemical studies on McLeod phenotype red cells and isolation of Kx antigen.

Authors:  C M Redman; W L Marsh; A Scarborough; C L Johnson; B I Rabin; M Overbeeke
Journal:  Br J Haematol       Date:  1988-01       Impact factor: 6.998

Review 2.  Genetics of Duchenne muscular dystrophy.

Authors:  R G Worton; M W Thompson
Journal:  Annu Rev Genet       Date:  1988       Impact factor: 16.830

3.  Localization of the McLeod locus (XK) within Xp21 by deletion analysis.

Authors:  C J Bertelson; A O Pogo; A Chaudhuri; W L Marsh; C M Redman; D Banerjee; W A Symmans; T Simon; D Frey; L M Kunkel
Journal:  Am J Hum Genet       Date:  1988-05       Impact factor: 11.025

4.  Conservation of the Duchenne muscular dystrophy gene in mice and humans.

Authors:  E P Hoffman; A P Monaco; C C Feener; L M Kunkel
Journal:  Science       Date:  1987-10-16       Impact factor: 47.728

5.  Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy.

Authors:  M Swash; M S Schwartz; N D Carter; R Heath; M Leak; K L Rogers
Journal:  Brain       Date:  1983-09       Impact factor: 13.501

6.  Association of dystrophin and an integral membrane glycoprotein.

Authors:  K P Campbell; S D Kahl
Journal:  Nature       Date:  1989-03-16       Impact factor: 49.962

7.  Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts.

Authors:  T A Partridge; J E Morgan; G R Coulton; E P Hoffman; L M Kunkel
Journal:  Nature       Date:  1989-01-12       Impact factor: 49.962
  7 in total
  4 in total

1.  Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21.

Authors:  M F Ho; A P Monaco; L A Blonden; G J van Ommen; N A Affara; M A Ferguson-Smith; H Lehrach
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

Review 2.  McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations.

Authors:  T N Witt; A Danek; M Reiter; M U Heim; J Dirschinger; E G Olsen
Journal:  J Neurol       Date:  1992-07       Impact factor: 4.849

3.  Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement.

Authors:  Alessandro Vaisfeld; Giorgia Bruno; Martina Petracca; Anna Rita Bentivoglio; Serenella Servidei; Maria Gabriella Vita; Francesco Bove; Giulia Straccia; Clemente Dato; Giuseppe Di Iorio; Simone Sampaolo; Silvio Peluso; Anna De Rosa; Giuseppe De Michele; Melissa Barghigiani; Daniele Galatolo; Alessandra Tessa; Filippo Santorelli; Pietro Chiurazzi; Mariarosa Anna Beatrice Melone
Journal:  Genes (Basel)       Date:  2021-02-26       Impact factor: 4.096

4.  Clinical and molecular research of neuroacanthocytosis.

Authors:  Lihong Zhang; Suping Wang; Jianwen Lin
Journal:  Neural Regen Res       Date:  2013-03-25       Impact factor: 5.135
  4 in total

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