Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

Emery‐Dreifuss muscular dystrophy (EDMD) is characterized by slowly progressive muscle wasting and weakness; early contractures of the elbows, Achilles tendons, and spine; and cardiomyopathy associated with cardiac conduction defects. Clinically indistinguishable X‐linked and autosomal forms of EDMD...

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Veröffentlicht in:	American journal of medical genetics 2001-09, Vol.102 (4), p.359-367
Hauptverfasser:	Brown, Charlotte A., Lanning, Robert W., McKinney, Kimberly Q., Salvino, Ann R., Cherniske, Elizabeth, Crowe, Carol A., Darras, Basil T., Gominak, Stasha, Greenberg, Cheryl R., Grosmann, Carla, Heydemann, Peter, Mendell, Jerry R., Pober, Barbara R., Sasaki, Takeshi, Shapiro, Frederick, Simpson, David A., Suchowersky, Oksana, Edward Spence, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino Acid Sequence Biological and medical sciences Child Child, Preschool Diseases of the osteoarticular system EDMD Emery-Dreifuss muscular dystrophy Female Humans lamin A/C Lamin Type A Lamins Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Middle Aged Molecular Sequence Data Muscular Dystrophies - genetics Muscular Dystrophy, Emery-Dreifuss mutation Mutation - genetics Nuclear Proteins - chemistry Nuclear Proteins - genetics Nuclear Proteins - physiology Pedigree
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