A Novel Lysosomal Myopathy Associated with Neuronal Ceroid Lipofuscinosis and Biallelic Variants in CLN8 (P3-11.029)

To describe the pathology and clinical features of a novel lysosomal myopathy associated with biallelic variants in CLN8

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Publication Details

Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000210893
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
0.00
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article

A Novel Lysosomal Myopathy Associated with Neuronal Ceroid Lipofuscinosis and Biallelic Variants in CLN8 (P3-11.029)

Sara Nordström, Carola Hedberg‐Oldfors, Ulrika Lindgren, Anders Oldfors
Neurology
Lysosomal Storage Disorders Research
article

A Novel Lysosomal Myopathy Associated with Neuronal Ceroid Lipofuscinosis and Biallelic Variants in CLN8 (P3-11.029)

Sara Nordström, Carola Hedberg‐Oldfors, Ulrika Lindgren, Anders Oldfors
article en

Abstract

To describe the pathology and clinical features of a novel lysosomal myopathy associated with biallelic variants in CLN8

NeurologyVol. 104(7_Supplement_1)
Sahlgrenska University Hospital (SE), University of Gothenburg (SE)
Zero hunger
Openalex Percentile: Top 91%
Lysosomal Storage Disorders Research
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