Format

Send to

Choose Destination
Eur J Hum Genet. 1998 Jul-Aug;6(4):325-30.

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

Author information

1
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Illkirch, France.

Abstract

X-linked recessive myotubular myopathy (XLMTM) is a very severe congenital muscular disease characterised by an impaired maturation of muscle fibres, and caused by defects in the MTM1 gene. This gene defines a new family of putative tyrosine phosphatases conserved through evolution. We have determined intronic flanking sequences for all the 15 exons to facilitate the detection of mutations in patients and genetic counselling. We characterised a new polymorphic marker in the immediate vicinity of the gene, which might prove useful for linkage analysis. Sequencing of the TATA-less predicted promoter provides the basis for transcriptional regulatory studies.

PMID:
9781038
DOI:
10.1038/sj.ejhg.5200189
[Indexed for MEDLINE]
Free full text

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center