Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy

Hum Mutat. 2000 Jul;16(1):94. doi: 10.1002/1098-1004(200007)16:1<94::AID-HUMU27>3.0.CO;2-N.

Authors

C C Menache¹, C A Brown, J H Donnelly, F Shapiro, B T Darras

Affiliation

¹ Departments of Neurology and Orthopedic Surgery, Children's Hospital and Harvard Medical School, Boston, MA 02115; Department of Pediatrics, Carolinas Medical Center, Charlotte, NC 28232-2861, USA.

PMID: 10874323
DOI: 10.1002/1098-1004(200007)16:1<94::AID-HUMU27>3.0.CO;2-N

No abstract available

Publication types

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

MeSH terms

Alternative Splicing / genetics
Amino Acid Substitution / genetics*
Humans
Membrane Proteins / genetics*
Muscular Dystrophy, Emery-Dreifuss / genetics*
Mutation / genetics*
Nuclear Proteins
Serine*
Thymopoietins / genetics*
United States
White People / genetics

Substances

Membrane Proteins
Nuclear Proteins
Thymopoietins
emerin
Serine