Myotonia Congenita

Known as: Generalized Myotonias, Congenital Myotonia, Myopathy, Congenital 
Inherited myotonic disorders with early childhood onset MYOTONIA. Muscular hypertrophy is common and myotonia may impair ambulation and other… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1944-2017
0204019442016

Papers overview

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Highly Cited
2004
Highly Cited
2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to… (More)
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2000
2000
OBJECTIVE To determine the functional consequences of missense mutations within the skeletal muscle chloride channel gene CLCN1… (More)
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1998
1998
Mutations in the ClC-1 muscle chloride channel cause either recessive or dominant myotonia congenita. Using a systematic… (More)
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Highly Cited
1995
Highly Cited
1995
Autosomal dominant myotonia congenita (Thomsen's disease) is caused by mutations in the muscle chloride channel CIC-1. Several… (More)
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Highly Cited
1994
Highly Cited
1994
Voltage-gated ClC chloride channels play important roles in cell volume regulation, control of muscle excitability, and probably… (More)
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1994
1994
Hyperkalemic periodic paralysis (hyperKPP) and paramyotonia congenita (PC) are genetic muscle disorders sharing the common… (More)
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1993
1993
Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human… (More)
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Highly Cited
1992
Highly Cited
1992
Autosomal recessive generalized myotonia (Becker's disease) (GM) and autosomal dominant myotonia congenita (Thomsen's disease… (More)
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1987
1987
We have studied 14 patients from a kindred with an autosomal dominant form of myotonia, with features differing from most cases… (More)
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1976
1976
We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive… (More)
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