Paramyotonia congenita and myotonic dystrophy are not allelic disorders.

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作者信息

Koch M, Harley H, Grimm T, Sarfarazi M, Müller B, Zoll B, Harper P S

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.

出版信息

Cytogenet Cell Genet. 1989;50(2-3):176-7. doi: 10.1159/000132755.

DOI:10.1159/000132755

PMID:2776487

Abstract

摘要

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Paramyotonia congenita and myotonic dystrophy are not allelic disorders.

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相似文献

Paramyotonia congenita and myotonic dystrophy are not allelic disorders.

Cytogenet Cell Genet. 1989;50(2-3):176-7. doi: 10.1159/000132755.

Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19.

Hum Genet. 1989 May;82(2):163-6. doi: 10.1007/BF00284051.

Dystrophia myotonica, paramyotonia and myotonia congenita.

Acta Genet Stat Med. 1957;7(2):310-4. doi: 10.1159/000150995.

Transitional forms between myotonia congenita, dystrophia myotonica and paramyotonia congenita.

N Z Med J. 1968 Mar;67(429):347-50.

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19.

Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment.

J Child Neurol. 1997 Feb;12(2):116-29. doi: 10.1177/088307389701200208.

[Relation between congenital myotonia and myotonic dystrophy].

Zhonghua Shen Jing Jing Shen Ke Za Zhi. 1985 Dec;18(6):350-2.

Dystrophia myotonica and myotonia congenita concurring in one family. A clinical and genetic study.

Brain. 1980 Sep;103(3):497-513. doi: 10.1093/brain/103.3.497.

[Karyologic studies in cases of Thomsen's myotonia and atrophic myotonia].

Neurol Neurochir Pol. 1969 May-Jun;3(3):311-4.

[Myotonia syndromes].

Rev Prat. 1988 Oct 6;38(22):1546-51.