X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

Journal of medical genetics ·Vol. 27 ·No. 5 ·1990-05-00 ·Pages 284-7

Thomas NS, Williams H, Cole G, Roberts K, Clarke A, Liechti-Gallati S, Braga S, Gerber A, Meier C, Moser H

Abstract

We have studied the inheritance of several polymorphic Xq27/28 DNA marker loci in two three generation families with the X linked neonatal lethal form of centronuclear/myotubular myopathy (XL MTM). We found complete linkage of XLMTM to all four informative Xq28 markers analysed, with GCP/RCP (Z = 3.876, theta = 0.00), with DXS15 (Z = 3.737, theta = 0.00), with DXS52 (Z = 2.709, theta = 0.00), and with F8C (Z = 1.020, theta = 0.00). In the absence of any observable recombination, we are unable to sublocalise the XLMTM locus further within the Xq28 region. This evidence for an Xq28 localisation may allow us to carry out useful genetic counselling within such families.

MeSH Terms

Cell Nucleus/ultrastructure Chromosome Mapping DNA Probes Female Genetic Linkage Genetic Markers Humans Infant, Newborn Male Muscular Atrophy/genetics,pathology Pedigree X Chromosome

Chemicals

DNA Probes Genetic Markers

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Thomas N S

Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.

Williams H

Cole G

Roberts K

Clarke A

Liechti-Gallati S

Braga S

Gerber A

Meier C

Moser H

References (12)

12 references, click to expand

Myotubular myopathy. Persistence of fetal muscle in an adolescent boy.
Arch Neurol. 1966 Jan;14(1):1-14 PMID: 4954227
X-linked myotubular myopathy with fatal neonatal asphyxia.
Neurology. 1975 Jun;25(6):531-6 PMID: 1168872
X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures.
Arch Neurol. 1979 Oct;36(10):604-9 PMID: 573609
Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of fetal muscle.
Can J Neurol Sci. 1981 Nov;8(4):313-20 PMID: 7326611
Infantile centronuclear myopathy. Evidence suggesting incomplete innervation.
J Neurol Sci. 1983 Jul;60(1):79-88 PMID: 6875615
Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome.
Genomics. 1989 May;4(4):570-8 PMID: 2744766
"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.
Anal Biochem. 1984 Feb;137(1):266-7 PMID: 6329026
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene.
Nature. 1985 Apr 25-May 1;314(6013):738-40 PMID: 2986011
Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.
Brain. 1985 Dec;108 ( Pt 4):941-64 PMID: 4075080
Molecular genetics of inherited variation in human color vision.
Science. 1986 Apr 11;232(4747):203-10 PMID: 3485310
X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female.
Clin Genet. 1987 Aug;32(2):95-9 PMID: 3652496
Easy calculations of lod scores and genetic risks on small computers.
Am J Hum Genet. 1984 Mar;36(2):460-5 PMID: 6585139

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.27.5.284

Published

1990-05-00

Pages

284-7

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1017076

Subset

External Links

PubMed source DOI: 10.1136/jmg.27.5.284 PMC Full Text View journal details

Analysis Services

X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

Contact

WeChat Official Account