A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Maria L. Rocha; Carsten Dittmayer; Akinori Uruha; Dirk Korinth; Rabih Chaoui; Dietmar Schlembach; Rainer Rossi; Katarina Pelin; Eun Kyung Suk; Simone Schmid; Hans H. Goebel; Markus Schuelke; Werner Stenzel; Benjamin Englert

doi:10.1016/j.nmd.2020.11.014

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Maria L. Rocha, Carsten Dittmayer, Akinori Uruha, Dirk Korinth, Rabih Chaoui, Dietmar Schlembach, Rainer Rossi, Katarina Pelin, Eun Kyung Suk, Simone Schmid, Hans H. Goebel, Markus Schuelke, Werner Stenzel, Benjamin Englert

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

Original language	English
Journal	Neuromuscular Disorders
Volume	31
Issue number	3
Pages (from-to)	239-245
Number of pages	7
ISSN	0960-8966
DOIs	https://doi.org/10.1016/j.nmd.2020.11.014
Publication status	Published - Mar 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

Nemaline myopathy
NEB
Arthrogryposis
Large-scale electron microscopy
3112 Neurosciences
3124 Neurology and psychiatry

Access to Document

10.1016/j.nmd.2020.11.014

Cite this

Rocha, M. L., Dittmayer, C., Uruha, A., Korinth, D., Chaoui, R., Schlembach, D., Rossi, R., Pelin, K., Suk, E. K., Schmid, S., Goebel, H. H., Schuelke, M., Stenzel, W., & Englert, B. (2021). A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation. Neuromuscular Disorders, 31(3), 239-245. https://doi.org/10.1016/j.nmd.2020.11.014

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title = "A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation",

keywords = "Nemaline myopathy, NEB, Arthrogryposis, Large-scale electron microscopy, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Rocha, {Maria L.} and Carsten Dittmayer and Akinori Uruha and Dirk Korinth and Rabih Chaoui and Dietmar Schlembach and Rainer Rossi and Katarina Pelin and Suk, {Eun Kyung} and Simone Schmid and Goebel, {Hans H.} and Markus Schuelke and Werner Stenzel and Benjamin Englert",

year = "2021",

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doi = "10.1016/j.nmd.2020.11.014",

language = "English",

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AU - Rocha, Maria L.

AU - Dittmayer, Carsten

AU - Uruha, Akinori

AU - Korinth, Dirk

AU - Chaoui, Rabih

AU - Schlembach, Dietmar

AU - Rossi, Rainer

AU - Pelin, Katarina

AU - Suk, Eun Kyung

AU - Schmid, Simone

AU - Goebel, Hans H.

AU - Schuelke, Markus

AU - Stenzel, Werner

AU - Englert, Benjamin

PY - 2021/3

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KW - Nemaline myopathy

KW - NEB

KW - Arthrogryposis

KW - Large-scale electron microscopy

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1016/j.nmd.2020.11.014

DO - 10.1016/j.nmd.2020.11.014

M3 - Article

VL - 31

SP - 239

EP - 245

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 3

ER -