A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

Case report 3

Murray K. Dalinka, R. E. Brennan, Arthur S. Patchefsky · Skeletal Radiology · 1976 · 4.1K citations

Clinical Case Report, Law, Criminal Law +2

Advances in genetics

M. Demerec, Ernst Caspari, J. M. Thoday et al. · Advances in genetics · 1947 · 413 citations

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)

Alfred L. George, Michael A. Crackower, Judith A. Abdalla et al. · Nature Genetics · 1993 · 282 citations

Mendelian Disorder, Disease Mechanism, Genetic Disorder +4

Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen).

Klaus Steinmeyer, C Lorenz, Michael Pusch et al. · The EMBO Journal · 1994 · 222 citations · Full text

Biology, Dominant Myotonia Congenita, Signal Transduction +11

ON AMYOTONIA CONGENITA

J. W. A. Turner · Brain · 1949 · 135 citations

On Amyotonia Congenita, Psychoactive Drug, Psychiatry +2