Literature DB >> 8151647

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

E Tahvanainen1, A H Beggs, C Wallgren-Pettersson.   

Abstract

The putative gene for autosomal recessive nemaline myopathy has not been mapped, cloned, or otherwise characterised. We used linkage analysis with polymorphic CA repeats to test for the involvement of two candidate loci, APOA2 and ACTN2. Based on the segregation in five families both candidate loci could be excluded.

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 8151647      PMCID： PMC1049608          DOI： 10.1136/jmg.31.1.79

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


  10 in total

1.  Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

Authors:  A H Beggs; T J Byers; J H Knoll; F M Boyce; G A Bruns; L M Kunkel
Journal:  J Biol Chem       Date:  1992-05-05       Impact factor: 5.157

2.  Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Authors:  N G Laing; B T Majda; P A Akkari; M G Layton; J C Mulley; H Phillips; E A Haan; S J White; A H Beggs; L M Kunkel
Journal:  Am J Hum Genet       Date:  1992-03       Impact factor: 11.025

3.  NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY.

Authors:  G M SHY; W K ENGEL; J E SOMERS; T WANKO
Journal:  Brain       Date:  1963-12       Impact factor: 13.501

4.  A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

Authors:  A H Beggs; H A Phillips; H Kozman; J C Mulley; S D Wilton; L M Kunkel; N G Laing
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736

5.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

6.  Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods.

Authors:  B M Jockusch; H Veldman; G W Griffiths; B A van Oost; F G Jennekens
Journal:  Exp Cell Res       Date:  1980-06       Impact factor: 3.905

7.  Genetics of congenital nemaline myopathy: a study of 10 families.

Authors:  C Wallgren-Pettersson; H Kääriäinen; J Rapola; T Salmi; J Jääskeläinen; M Donner
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

8.  LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS.

Authors:  P E CONEN; E G MURPHY; W L DONOHUE
Journal:  Can Med Assoc J       Date:  1963-11-09       Impact factor: 8.262

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  Congenital nemaline myopathy. A clinical follow-up of twelve patients.

Authors:  C Wallgren-Pettersson
Journal:  J Neurol Sci       Date:  1989-01       Impact factor: 3.181
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.