Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

Clara Hildebrandt; Casie A. Genetti; Tanya Logvinenko; Wathone Win; Pamela Barraza-Flores; Leslie H. Hayes; Shira Rockowitz; Vilma-Lotta Lehtokari; Susan T. Iannaccone; Basil T. Darras; Haluk Topaloglu; Carina Wallgren-Pettersson; Alan H. Beggs

doi:10.1212/NXG.0000000000200277

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

Clara Hildebrandt, Casie A. Genetti, Tanya Logvinenko, Wathone Win, Pamela Barraza-Flores, Leslie H. Hayes, Shira Rockowitz, Vilma-Lotta Lehtokari, Susan T. Iannaccone, Basil T. Darras, Haluk Topaloglu, Carina Wallgren-Pettersson, Alan H. Beggs

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

Original language	English
Article number	e200277
Journal	Neurology Genetics
Volume	11
Issue number	4
Number of pages	13
ISSN	2376-7839
DOIs	https://doi.org/10.1212/NXG.0000000000200277
Publication status	Published - Aug 2025
MoE publication type	A1 Journal article-refereed

Fields of Science

Alpha-actin gene
Genotype-phenotype correlations
Thin filament length
Muscle weakness
Founder mutation
Tropomyosin gene
Rod myopathy
Nebulin gene
Tpm3
Identification
3111 Biomedicine
1184 Genetics, developmental biology, physiology
3112 Neurosciences

Access to Document

10.1212/NXG.0000000000200277

hildebrandt-et-al-2025-retrospective-cohort-analysis-of-clinical-molecular-and-histopathologic-characteristics-of-275Final published version, 811 KBLicence: CC BY-NC-ND

Cite this

Hildebrandt, C., Genetti, C. A., Logvinenko, T., Win, W., Barraza-Flores, P., Hayes, L. H., Rockowitz, S., Lehtokari, V.-L., Iannaccone, S. T., Darras, B. T., Topaloglu, H., Wallgren-Pettersson, C., & Beggs, A. H. (2025). Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. Neurology Genetics, 11(4), Article e200277. https://doi.org/10.1212/NXG.0000000000200277

@article{b1fada5df6f44dd591168bf74731fc93,

title = "Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy",

keywords = "Alpha-actin gene, Genotype-phenotype correlations, Thin filament length, Muscle weakness, Founder mutation, Tropomyosin gene, Rod myopathy, Nebulin gene, Tpm3, Identification, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology, 3112 Neurosciences",

author = "Clara Hildebrandt and Genetti, \{Casie A.\} and Tanya Logvinenko and Wathone Win and Pamela Barraza-Flores and Hayes, \{Leslie H.\} and Shira Rockowitz and Vilma-Lotta Lehtokari and Iannaccone, \{Susan T.\} and Darras, \{Basil T.\} and Haluk Topaloglu and Carina Wallgren-Pettersson and Beggs, \{Alan H.\}",

year = "2025",

month = aug,

doi = "10.1212/NXG.0000000000200277",

language = "English",

volume = "11",

journal = "Neurology Genetics",

issn = "2376-7839",

publisher = "Lippincott williams \& wilkins",

number = "4",

}

Hildebrandt, C, Genetti, CA, Logvinenko, T, Win, W, Barraza-Flores, P, Hayes, LH, Rockowitz, S, Lehtokari, V-L, Iannaccone, ST, Darras, BT, Topaloglu, H, Wallgren-Pettersson, C & Beggs, AH 2025, 'Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy', Neurology Genetics, vol. 11, no. 4, e200277. https://doi.org/10.1212/NXG.0000000000200277

TY - JOUR

T1 - Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

AU - Hildebrandt, Clara

AU - Genetti, Casie A.

AU - Logvinenko, Tanya

AU - Win, Wathone

AU - Barraza-Flores, Pamela

AU - Hayes, Leslie H.

AU - Rockowitz, Shira

AU - Lehtokari, Vilma-Lotta

AU - Iannaccone, Susan T.

AU - Darras, Basil T.

AU - Topaloglu, Haluk

AU - Wallgren-Pettersson, Carina

AU - Beggs, Alan H.

PY - 2025/8

Y1 - 2025/8

KW - Alpha-actin gene

KW - Genotype-phenotype correlations

KW - Thin filament length

KW - Muscle weakness

KW - Founder mutation

KW - Tropomyosin gene

KW - Rod myopathy

KW - Nebulin gene

KW - Tpm3

KW - Identification

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

KW - 3112 Neurosciences

U2 - 10.1212/NXG.0000000000200277

DO - 10.1212/NXG.0000000000200277

M3 - Article

C2 - 40661861

SN - 2376-7839

VL - 11

JO - Neurology Genetics

JF - Neurology Genetics

IS - 4

M1 - e200277

ER -