Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene

J J Pernelle; P Chafey; J Chelly; J P Wahrmann; J C Kaplan; F Tomé; M Fardeau

doi:10.1007/BF00291678

Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene

Hum Genet. 1988 Mar;78(3):285. doi: 10.1007/BF00291678.

Authors

J J Pernelle¹, P Chafey, J Chelly, J P Wahrmann, J C Kaplan, F Tomé, M Fardeau

Affiliation

¹ Institut de Pathologie Moléculaire, INSERM U15 and U129, CHU Cochin, Paris, France.

PMID: 3346018
DOI: 10.1007/BF00291678

Abstract

The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Deletion*
Electrophoresis, Polyacrylamide Gel
Humans
Male
Muscle Proteins / analysis
Muscle Proteins / genetics*
Muscles / analysis
Muscular Dystrophies / genetics*

Substances

Muscle Proteins
nebulin