Dysferlinopathy in Switzerland: Clinical phenotypes and potential founder effects

BMC Neurology

Volumn 15, Issue 1, 2015, Pages

  Petersen, Jens A ^a   Kuntzer, Thierry ^b   Fischer, Dirk ^c   von der Hagen, Maja ^d   Huebner, Angela ^e   Kana, Veronika ^f   Lobrinus, Johannes A ^g   Kress, Wolfram ^h   Rushing, Elisabeth J ^f   Sinnreich, Michael ^c   Jung, Hans H ^a  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d Abteilung Neuropäriatrie   (Germany)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^f UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^g GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^h UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; DYSFERLIN; GUANINE; THYMINE; DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; DYSF GENE; DYSFERLINOPATHY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HAPLOTYPE; HOMOZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; SWITZERLAND; YOUNG ADULT; FOUNDER EFFECT; GENETICS; HETEROZYGOTE; LIMB GIRDLE MUSCULAR DYSTROPHY; MIDDLE AGED; MUTATION;

ADOLESCENT; ADULT; FEMALE; FOUNDER EFFECT; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PHENOTYPE; SWITZERLAND; YOUNG ADULT;

EID: 84943399079     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/s12883-015-0449-3     Document Type: Article

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