Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

Peter Hackman; Salla M. Rusanen; Mridul Johari; Anna Vihola; Per Harald Jonson; Jaakko Sarparanta; Kati Donner; Päivi Lahermo; Sampo Koivunen; Helena Luque; Merja Soininen; Ibrahim Mahjneh; Mari Auranen; Meharji Arumilli; Marco Savarese; Bjarne Udd

doi:10.1212/NXG.0000000000000632

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

Peter Hackman, Salla M. Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Kati Donner, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh, Mari Auranen, Meharji Arumilli, Marco Savarese, Bjarne Udd

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

Original language	English
Article number	632
Journal	Neurology Genetics
Volume	7
Issue number	6
Number of pages	10
ISSN	2376-7839
DOIs	https://doi.org/10.1212/NXG.0000000000000632
Publication status	Published - Dec 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

PRION-LIKE DOMAINS
MULTISYSTEM PROTEINOPATHY
RNA-SEQ
MUTATIONS
PHENOTYPE
HEALTH
FAMILY
3112 Neurosciences
3124 Neurology and psychiatry
1184 Genetics, developmental biology, physiology

Access to Document

10.1212/NXG.0000000000000632

e632.fullFinal published version, 967 KBLicence: CC BY-NC-ND

Cite this

Hackman, P., Rusanen, S. M., Johari, M., Vihola, A., Jonson, P. H., Sarparanta, J., Donner, K., Lahermo, P., Koivunen, S., Luque, H., Soininen, M., Mahjneh, I., Auranen, M., Arumilli, M., Savarese, M., & Udd, B. (2021). Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene. Neurology Genetics, 7(6), Article 632. https://doi.org/10.1212/NXG.0000000000000632

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T1 - Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

AU - Hackman, Peter

AU - Rusanen, Salla M.

AU - Johari, Mridul

AU - Vihola, Anna

AU - Jonson, Per Harald

AU - Sarparanta, Jaakko

AU - Donner, Kati

AU - Lahermo, Päivi

AU - Koivunen, Sampo

AU - Luque, Helena

AU - Soininen, Merja

AU - Mahjneh, Ibrahim

AU - Auranen, Mari

AU - Arumilli, Meharji

AU - Savarese, Marco

AU - Udd, Bjarne

PY - 2021/12

Y1 - 2021/12

KW - PRION-LIKE DOMAINS

KW - MULTISYSTEM PROTEINOPATHY

KW - RNA-SEQ

KW - MUTATIONS

KW - PHENOTYPE

KW - HEALTH

KW - FAMILY

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1212/NXG.0000000000000632

DO - 10.1212/NXG.0000000000000632

M3 - Article

SN - 2376-7839

VL - 7

JO - Neurology Genetics

JF - Neurology Genetics

IS - 6

M1 - 632

ER -