Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Isabelle Richard, Odile Broux, Valéerie Allamand et al. · Cell · 1995 · 997 citations · Full text

Life Sciences, Genetics, Molecular Biology +11

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

Silvia Bione, Elena Maestrini, Stefano Rivella et al. · Nature Genetics · 1994 · 885 citations

Life Sciences, Genetics, Molecular Genetics +10

Autosomal recessive limbgirdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ–sarcoglycan gene

Vincenzo Nigro, Eloisa De Sá Moreira, Giulio Piluso et al. · Nature Genetics · 1996 · 424 citations

Medicine, Genetics, Molecular Genetics +12

Unusual type of benign x-linked muscular dystrophy.

Alan E H Emery, Fritz E. Dreifuss · Journal of Neurology Neurosurgery & Psychiatry · 1966 · 400 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

S. Manilal · Human Molecular Genetics · 1996 · 375 citations

Life Sciences, Biochemistry, Molecular Biology +17