Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy
Abstract
Background and Objectives: gene. The disease is characterized by protein aggregates in myocytes strongly stained with menadione-nitro blue tetrazolium with α-glycerophosphate and immunoreactive for FHL1 as myopathologic hallmarks. RBM is an X-linked dominant disorder, with the most severe cases occurring in hemizygous sporadic male patients, who usually present with early onset and rapid progression. This study aimed to comprehensively analyse a cohort of FHL1 female patients presenting with a severe and rapidly progressive phenotype clinically mimicking an inflammatory idiopathic myopathy. Methods: gene from France and Italy. Data regarding clinical onset and progression, myopathologic features, muscle imaging, and genetic testing have been collected retrospectively and analyzed from medical records. Result: and loss of ambulation after a mean period of 6.2 years in 4 of them. Serum CK level at onset was slightly elevated with a mean value of 539 UI/L. Muscle MRI revealed severe asymmetric proximo-distal involvement with STIR positive sequences. Muscle biopsies showed reducing bodies and prominent autophagic material accumulation. Discussion: -related reducing body myopathy can present with a rapidly progressive muscle weakness mimicking an inflammatory myopathy also in female patient. Muscle biopsy is an useful tool in the contest of rapidly progressive myopathy to distinguish between genetic myopathies and treatable inflammatory myopathy.
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BibTeX
@article{severa2026reducing,
title = {{Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy}},
author = {Gianmarco Severa and Christine Barnerias and Cyril Gitiaux and Pascal Laforet and Isabelle Desguerre and Sarah Souvannanorath and Baptiste Periou and Sultan Bastu and Hélène Prigent and Norma Beatriz Romero and Paolo Bonaldo and Luciano Merlini and Giovanna Cenacchi and Elena Pegoraro and Luca Bello and John Rendu and Marcello Villanova and Robert Yves Carlier and Edoardo Malfatti and François-Jérôme Authier},
journal = {Neurology Genetics},
year = {2026},
month = oct,
doi = {10.1212/nxg.0000000000200392},
url = {https://hal.science/hal-05788804v1},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Reducing Body Myopathy in Female Patients With FHL1 Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy
AU - Gianmarco Severa
AU - Christine Barnerias
AU - Cyril Gitiaux
AU - Pascal Laforet
AU - Isabelle Desguerre
AU - Sarah Souvannanorath
AU - Baptiste Periou
AU - Sultan Bastu
AU - Hélène Prigent
AU - Norma Beatriz Romero
AU - Paolo Bonaldo
AU - Luciano Merlini
AU - Giovanna Cenacchi
AU - Elena Pegoraro
AU - Luca Bello
AU - John Rendu
AU - Marcello Villanova
AU - Robert Yves Carlier
AU - Edoardo Malfatti
AU - François-Jérôme Authier
PY - 2026
DA - 2026/10/09
JO - Neurology Genetics
DO - 10.1212/nxg.0000000000200392
UR - https://hal.science/hal-05788804v1
AB - Background and Objectives: gene. The disease is characterized by protein aggregates in myocytes strongly stained with menadione-nitro blue tetrazolium with α-glycerophosphate and immunoreactive for FHL1 as myopathologic hallmarks. RBM is an X-linked dominant disorder, with the most severe cases occurring in hemizygous sporadic male patients, who usually present with early onset and rapid progression. This study aimed to comprehensively analyse a cohort of FHL1 female patients presenting with a severe and rapidly progressive phenotype clinically mimicking an inflammatory idiopathic myopathy. Methods: gene from France and Italy. Data regarding clinical onset and progression, myopathologic features, muscle imaging, and genetic testing have been collected retrospectively and analyzed from medical records. Result: and loss of ambulation after a mean period of 6.2 years in 4 of them. Serum CK level at onset was slightly elevated with a mean value of 539 UI/L. Muscle MRI revealed severe asymmetric proximo-distal involvement with STIR positive sequences. Muscle biopsies showed reducing bodies and prominent autophagic material accumulation. Discussion: -related reducing body myopathy can present with a rapidly progressive muscle weakness mimicking an inflammatory myopathy also in female patient. Muscle biopsy is an useful tool in the contest of rapidly progressive myopathy to distinguish between genetic myopathies and treatable inflammatory myopathy.
SN - 2376-7839
ER -