A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12

Yohei Iguchi; Koyo Tsujikawa; Ayuka Murakami; Kodai Kume; Yuka Nakazawa; Taichi Oso; Yosuke Nishio; Koji Matsuo; Yuki Fukami; Kunihiko Araki; Tomoo Ogi; Hideshi Kawakami; Masahisa Katsuno

doi:10.2169/internalmedicine.6194-25

A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in LRP12

Yohei Iguchi, Koyo Tsujikawa, Ayuka Murakami, Kodai Kume, Yuka Nakazawa, Taichi Oso, Yosuke Nishio, Koji Matsuo, Yuki Fukami, Kunihiko Araki, Tomoo Ogi, Hideshi Kawakami, Masahisa Katsuno

Author information

Yohei Iguchi
Department of Neurology, Nagoya University Graduate School of Medicine, Japan
Koyo Tsujikawa
Department of Neurology, Nagoya University Graduate School of Medicine, Japan
Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan
Ayuka Murakami
Department of Neurology, Nagoya University Graduate School of Medicine, Japan
Kodai Kume
Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan
Yuka Nakazawa
Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan
Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Japan
Taichi Oso
Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan
Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Japan
Yosuke Nishio
Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan
Koji Matsuo
Department of Neurology, Nagoya University Graduate School of Medicine, Japan
Yuki Fukami
Department of Neurology, Nagoya University Graduate School of Medicine, Japan
Kunihiko Araki
Department of Neurology, Nagoya University Graduate School of Medicine, Japan
Tomoo Ogi
Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan
Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Japan
Division of Animal Medical Science, Center for One Medicine Innovative Translational Research, Nagoya University, Japan
Division of Molecular Physiology and Dynamics, Institute for Glyco-core Research, Nagoya University, Japan
Hideshi Kawakami
Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan
Masahisa Katsuno
Department of Neurology, Nagoya University Graduate School of Medicine, Japan

Keywords: Distal muscular atrophy, oculopharyngodistal myopathy, CGG repeat expansions, LRP12, long read sequencing

JOURNAL OPEN ACCESS Advance online publication

Article ID: 6194-25

DOI https://doi.org/10.2169/internalmedicine.6194-25

Details

Abstract

This study describes a family of patients with distal muscle atrophy and oculopharyngodistal myopathy (OPDM). Patients with distal muscle atrophy exhibited slowly progressive distal-predominant muscle weakness without ptosis, ophthalmoplegia, or facial weakness. Long-read sequencing confirmed the presence of intermediate and pathogenic CGG repeat expansions in LRP12 in the patients with distal muscle atrophy and OPDM, respectively. This family demonstrated a similar phenotype-genotype correlation dependent on the LRP12 repeat length, as in a previous study, but the case with intermediate repeats could not be classified into a single etiology, even after comprehensive electrophysiological assessments and muscle biopsy.

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