Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Lydia Sagath; Vilma-Lotta Lehtokari; Salla Välipakka; Anna Vihola; Maria Gardberg; Peter Hackman; Katarina Pelin; Manu Jokela; Kirsi Kiiski; Bjarne Udd; Carina Wallgren-Pettersson

doi:10.1016/j.nmd.2021.03.006

Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Lydia Sagath
, Vilma-Lotta Lehtokari
, Salla Välipakka
, Anna Vihola
, Maria Gardberg
, Peter Hackman
, Katarina Pelin
, Manu Jokela
, Kirsi Kiiski
, Bjarne Udd
, Carina Wallgren-Pettersson

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

Original language	English
Journal	Neuromuscular Disorders
Volume	31
Issue number	6
Pages (from-to)	539-545
Number of pages	7
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2021.03.006
Publication status	Published - Jun 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

Nebulin
de novo mutation
Mosaicism
Copy number variation
Large deletion
COPY-NUMBER VARIATION
CORE-ROD MYOPATHY
NEMALINE MYOPATHY
MUTATIONS
GENE
MUSCLE
3112 Neurosciences

Access to Document

10.1016/j.nmd.2021.03.006

NEBdel-denovo_manuscript_cleanAccepted author manuscript, 697 KBLicence: CC BY-NC-ND

Cite this

Sagath, L., Lehtokari, V.-L., Välipakka, S., Vihola, A., Gardberg, M., Hackman, P., Pelin, K., Jokela, M., Kiiski, K., Udd, B., & Wallgren-Pettersson, C. (2021). Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin. Neuromuscular Disorders, 31(6), 539-545. https://doi.org/10.1016/j.nmd.2021.03.006

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title = "Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin",

keywords = "Nebulin, de novo mutation, Mosaicism, Copy number variation, Large deletion, COPY-NUMBER VARIATION, CORE-ROD MYOPATHY, NEMALINE MYOPATHY, MUTATIONS, GENE, MUSCLE, 3112 Neurosciences",

author = "Lydia Sagath and Vilma-Lotta Lehtokari and Salla V{\"a}lipakka and Anna Vihola and Maria Gardberg and Peter Hackman and Katarina Pelin and Manu Jokela and Kirsi Kiiski and Bjarne Udd and Carina Wallgren-Pettersson",

year = "2021",

month = jun,

doi = "10.1016/j.nmd.2021.03.006",

language = "English",

volume = "31",

pages = "539--545",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd. ",

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Sagath, L, Lehtokari, V-L, Välipakka, S , Vihola, A, Gardberg, M, Hackman, P , Pelin, K, Jokela, M, Kiiski, K, Udd, B & Wallgren-Pettersson, C 2021, 'Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin', Neuromuscular Disorders, vol. 31, no. 6, pp. 539-545. https://doi.org/10.1016/j.nmd.2021.03.006

TY - JOUR

T1 - Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

AU - Sagath, Lydia

AU - Lehtokari, Vilma-Lotta

AU - Välipakka, Salla

AU - Vihola, Anna

AU - Gardberg, Maria

AU - Hackman, Peter

AU - Pelin, Katarina

AU - Jokela, Manu

AU - Kiiski, Kirsi

AU - Udd, Bjarne

AU - Wallgren-Pettersson, Carina

PY - 2021/6

Y1 - 2021/6

KW - Nebulin

KW - de novo mutation

KW - Mosaicism

KW - Copy number variation

KW - Large deletion

KW - COPY-NUMBER VARIATION

KW - CORE-ROD MYOPATHY

KW - NEMALINE MYOPATHY

KW - MUTATIONS

KW - GENE

KW - MUSCLE

KW - 3112 Neurosciences

U2 - 10.1016/j.nmd.2021.03.006

DO - 10.1016/j.nmd.2021.03.006

M3 - Article

SN - 0960-8966

VL - 31

SP - 539

EP - 545

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 6

ER -