Proximal myotonic myopathy: Clinical and molecular investigation of a Norwegian family with PROMM

Clinical Genetics

Volumn 56, Issue 6, 1999, Pages 457-461

  Sun, Chen ^a   Henriksen, Olaf Anton ^b   Tranebjærg, Lisbeth ^a  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b NORDLAND HOSPITAL   (Norway)

Author keywords

CLCN1; DM2; DMPK; Myotonia; PROMM

Indexed keywords

CHLORIDE CHANNEL; DNA MARKER;

ADULT; AGED; ARTICLE; CASE REPORT; CLINICAL FEATURE; FAMILY STUDY; FEMALE; GENE MUTATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; MALE; MYOPATHY; MYOTONIA; NORWAY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADULT; AGED; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; FAMILY HEALTH; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOTONIC DISORDERS; MYOTONIC DYSTROPHY; NORWAY; PEDIGREE; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEATS;

EID: 0033427150     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560609.x     Document Type: Article

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