Association Francaise Contre Les Myopathies

Jacques S Beckmann

Isabelle Richard

Nathalie Bourg

A nucleic acid sequence comprising: 1) the sequence represented in FIG.; or 2) the sequence represented in FIG.; or 3) a part of the sequence of FIG.with the proviso that it is able to code for a protein having a calcium dependant protease activity involved in a LGMD2; or 4) a sequence derived from a sequence defined in 1), 2) or 3) by substitution, deletion or addition of one or more nucleotides with the proviso that said sequences still codes for said protease.

LGMD gene coding for a calcium dependent protease

A method for detecting the homozygous or heterozygous state of mutations assumed to be present in a nucleic acid by simultaneously using two primer pairs. The two different primer pairs lead to the production of amplified fragments of different sizes, and the number and quality of the amplified bands enables homozygous and heterozygous items to be distinguished on the basis of said mutation.

Growing community of inventors

Charenton, France

Jacques S Beckmann