Results 171 to 180 of about 2,738 (205)

A “dystrophic” variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

Neurology, 2000
To identify the disease-causing mutation and its molecular consequence for a clinically distinct type of myotonic myopathy.The authors encountered a unique myotonic disorder of early onset in a 37-year-old man and his 47-year-old sister.After examining known loci of inherited myotonic disorders, the authors looked for mutations within the CLCN1 gene ...
S, Nagamitsu, T, Matsuura, M, Khajavi, R, Armstrong, C, Gooch, Y, Harati, T, Ashizawa   +6 more
openaire   +2 more sources

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family

Neurology, 1997
Myotonia congenita is an inherited disorder of skeletal muscle membrane excitability that stems from diminished activity of the sarcolemmal voltage-gated chloride channel. The syndrome may be transmitted by either an autosomal dominant (Thomsen's disease) or recessive (recessive generalized myotonia, Becker's myotonia) mode of inheritance, [1] and the ...
K, Sloan Brown, A L, George
openaire   +2 more sources

Sports performance of descendants of CLCN1 gene mutation carrier New Forest Pony Stallions

2015
In 2011, the CLCN1 gene mutation in New Forest Ponies (NF) was discovered by Wijnberg et al. This study tested the hypothesis that NF descending from a CLCN1 gene mutation carrier stallion (MCS) perform better in sports than NF that those not being descendants of the CLCN1 MCS.
Wijnberg, I.D., Dickhoff, Denise
openaire   +1 more source

41. Novel mutation in the CLCN1 gene causing myotonia congenita (Thomsen’s disease)

Journal of Clinical Neuroscience, 2009
Kishore Kumar, Karl Ng, Himesha Vandebona, Nigel Laing, Carolyn Sue   +4 more
openaire   +1 more source

[A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].

Rinsho shinkeigaku = Clinical neurology
A Japanese woman experienced slowness of movement in her early teens and difficulty in opening her hands during pregnancy. On admission to our hospital at 42 years of age, she showed grip myotonia with warm-up phenomenon. However, she had neither muscle weakness, muscle atrophy, cold-induced symptomatic worsening nor episodes of transient weakness of ...
Yoshitsugu, Nakamura, Hidenori, Sato, Kensuke, Kakiuchi, Yuki, Miyano, Takafumi, Hosokawa, Shigeki, Arawaka   +5 more
openaire   +1 more source

A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

Human Molecular Genetics, 1994
C, Meyer-Kleine, K, Ricker, M, Otto, M C, Koch   +3 more
openaire   +2 more sources

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Systemic therapy for hormone receptor‐positive/human epidermal growth factor receptor 2‐negative early stage and metastatic breast cancer

Ca-A Cancer Journal for Clinicians, 2023
Laura A Huppert, Hope S Rugo
exaly  

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

American journal of human genetics, 1996
Autosomal dominant myotonia congenita and autosomal recessive generalized myotonia (GM) are genetic disorders characterized by the symptom of myotonia, which is based on an electrical instability of the muscle fiber membrane. Recently, these two phenotypes have been associated with mutations in the major muscle chloride channel gene CLCN1 on human ...
C, Meyer-Kleine, K, Steinmeyer, K, Ricker, T J, Jentsch, M C, Koch   +4 more
openaire   +1 more source

G.P.14.08 Analysis of the CLCN1 gene in Czech patients with myotonia congenita

Neuromuscular Disorders, 2009
J. Sedlackova, S. Vohanka, M. Hermanova, P. Vondracek, L. Fajkusova   +4 more
openaire   +1 more source