Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

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ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.Dystrophia myotonica type 1 presenting with dysarthria: A case report and literature review.

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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports

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Alexander O Vortmeyer

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Amanda Amrita Lakraj

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Babar Khokhar

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Daniel B DiCapua

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Geoffrey Miller

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Richard J Nowak

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P2860

The skeletal muscle chloride channel in dominant and recessive human myotonia

Myotonia congenita

Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids

Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies

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

Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia

Muscle pathology of myotonia congenita.

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.

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101-106

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scholarly article

case report

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2013-03-12T00:00:00Z

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23483815

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3584487

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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

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P2860

P2860

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

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P1433

P1476

P2093

P2860

P304

P31

P433

P478

P577

P698

P932

P1433

P1476

P2093

P2860

P304

P31

P433

P478

P577

P698

P932