Literature DB >> 2352255

A linkage study of a large pedigree with X linked centronuclear myopathy.

J Starr1, M Lamont, L Iselius, J Harvey, J Heckmatt.   

Abstract

Centronuclear myopathy (CNM) is a muscle wasting disorder that occurs in three distinct forms. Previous studies have shown linkage between the X linked form of the disease and the Xq28 probes ST14, DX13, and F8C. Our study on a previously unreported, three generation, X linked CNM family confirms linkage between these markers and the CNM locus (Z = 3.21, theta = 00). However, results from the laboratory of J-L Mandel (Samson and Hanover, personal communication) on a number of X linked CNM families exclude genetic linkage from the region Xq26-qter, suggesting genetic heterogeneity in this condition.

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Year:  1990        PMID： 2352255      PMCID： PMC1017075          DOI： 10.1136/jmg.27.5.281

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


  6 in total

1.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

2.  A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A.

Authors:  K L Wion; E G Tuddenham; R M Lawn
Journal:  Nucleic Acids Res       Date:  1986-06-11       Impact factor: 16.971

3.  Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.

Authors:  A J Spiro; G M Shy; N K Gonatas
Journal:  Arch Neurol       Date:  1966-01

4.  Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.

Authors:  J Z Heckmatt; C A Sewry; D Hodes; V Dubowitz
Journal:  Brain       Date:  1985-12       Impact factor: 13.501

5.  Easy calculations of lod scores and genetic risks on small computers.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

6.  X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female.

Authors:  L D Keppen; M M Husain; R C Woody
Journal:  Clin Genet       Date:  1987-08       Impact factor: 4.438
  6 in total
  7 in total

1.  Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Authors:  Zehra Ordulu; Tammy Kammin; Harrison Brand; Vamsee Pillalamarri; Claire E Redin; Ryan L Collins; Ian Blumenthal; Carrie Hanscom; Shahrin Pereira; India Bradley; Barbara F Crandall; Pamela Gerrol; Mark A Hayden; Naveed Hussain; Bibi Kanengisser-Pines; Sibel Kantarci; Brynn Levy; Michael J Macera; Fabiola Quintero-Rivera; Erica Spiegel; Blair Stevens; Janet E Ulm; Dorothy Warburton; Louise E Wilkins-Haug; Naomi Yachelevich; James F Gusella; Michael E Talkowski; Cynthia C Morton
Journal:  Am J Hum Genet       Date:  2016-10-13       Impact factor: 11.025

2.  Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.

Authors:  B de Gouyon; A Chatterjee; A Monaco; N Quaderi; S D Brown; G E Herman
Journal:  Mamm Genome       Date:  1996-08       Impact factor: 2.957

3.  X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Authors:  N Dahl; F Samson; N S Thomas; L J Hu; W Gong; G Herman; J Laporte; P Kioschis; A Poustka; J L Mandel
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

Review 4.  The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Authors:  C Wallgren-Pettersson; A Clarke; F Samson; M Fardeau; V Dubowitz; H Moser; T Grimm; R J Barohn; P G Barth
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

5.  Genetic linkage heterogeneity in myotubular myopathy.

Authors:  F Samson; L Mesnard; M Heimburger; A Hanauer; M Chevallay; J J Mercadier; J F Pelissier; N Feingold; C Junien; J L Mandel
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

6.  Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Authors:  N Dahl; L J Hu; M Chery; M Fardeau; S Gilgenkrantz; A Nivelon-Chevallier; I Sidaner-Noisette; F Mugneret; J B Gouyon; A Gal
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

Review 7.  Centronuclear (myotubular) myopathy.

Authors:  Heinz Jungbluth; Carina Wallgren-Pettersson; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2008-09-25       Impact factor: 4.123
  7 in total

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