Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

Isis B. T. Joosten; Debby M. E. I. Hellebrekers; Bianca T. A. de Greef; Hubert J. M. Smeets; Christine E. M. de Die-Smulders; Catharina G. Faber; Monique M. Gerrits

doi:10.1038/s41431-020-0601-4

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

Isis B. T. Joosten, Debby M. E. I. Hellebrekers, Bianca T. A. de Greef, Hubert J. M. Smeets, Christine E. M. de Die-Smulders, Catharina G. Faber, Monique M. Gerrits^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	956-962
Number of pages	7
Journal	European Journal of Human Genetics
Volume	28
Issue number	7
DOIs	https://doi.org/10.1038/s41431-020-0601-4
Publication status	Published - Jul 2020

Keywords

CTG REPEAT
PATERNAL TRANSMISSION
HUNTINGTON-DISEASE
CAG REPEAT
PRACTICE GUIDELINES
EXPANSION
ORIGIN
SIZE
HETEROGENEITY
ANTICIPATION

Access to Document

10.1038/s41431-020-0601-4

Cite this

Joosten, I. B. T., Hellebrekers, D. M. E. I., de Greef, B. T. A., Smeets, H. J. M., de Die-Smulders, C. E. M., Faber, C. G., & Gerrits, M. M. (2020). Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations. European Journal of Human Genetics, 28(7), 956-962. https://doi.org/10.1038/s41431-020-0601-4

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title = "Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations",

keywords = "CTG REPEAT, PATERNAL TRANSMISSION, HUNTINGTON-DISEASE, CAG REPEAT, PRACTICE GUIDELINES, EXPANSION, ORIGIN, SIZE, HETEROGENEITY, ANTICIPATION",

author = "Joosten, {Isis B. T.} and Hellebrekers, {Debby M. E. I.} and {de Greef}, {Bianca T. A.} and Smeets, {Hubert J. M.} and {de Die-Smulders}, {Christine E. M.} and Faber, {Catharina G.} and Gerrits, {Monique M.}",

year = "2020",

month = jul,

doi = "10.1038/s41431-020-0601-4",

language = "English",

volume = "28",

pages = "956--962",

journal = "European Journal of Human Genetics",

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publisher = "Nature Publishing Group",

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Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations. / Joosten, Isis B. T.; Hellebrekers, Debby M. E. I.; de Greef, Bianca T. A.; Smeets, Hubert J. M.; de Die-Smulders, Christine E. M.; Faber, Catharina G.; Gerrits, Monique M.

In: European Journal of Human Genetics, Vol. 28, No. 7, 07.2020, p. 956-962.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations

AU - Joosten, Isis B. T.

AU - Hellebrekers, Debby M. E. I.

AU - de Greef, Bianca T. A.

AU - Smeets, Hubert J. M.

AU - de Die-Smulders, Christine E. M.

AU - Faber, Catharina G.

AU - Gerrits, Monique M.

PY - 2020/7

Y1 - 2020/7

KW - CTG REPEAT

KW - PATERNAL TRANSMISSION

KW - HUNTINGTON-DISEASE

KW - CAG REPEAT

KW - PRACTICE GUIDELINES

KW - EXPANSION

KW - ORIGIN

KW - SIZE

KW - HETEROGENEITY

KW - ANTICIPATION

U2 - 10.1038/s41431-020-0601-4

DO - 10.1038/s41431-020-0601-4

M3 - Article

VL - 28

SP - 956

EP - 962

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 7

ER -