Ichizo Nishino
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View article: Myosin inhibition partially rescues the myofibre proteome in X-linked myotubular myopathy
Myosin inhibition partially rescues the myofibre proteome in X-linked myotubular myopathy Open
X-linked myotubular myopathy (XLMTM) due to MTM1 mutations is a rare and often lethal congenital myopathy. Its downstream molecular and cellular mechanisms are currently incompletely understood. The most abundant protein in muscle, myosin,…
View article: COL12A1-related myopathic Ehlers–Danlos syndrome with Chiari I malformation: A clinical report
COL12A1-related myopathic Ehlers–Danlos syndrome with Chiari I malformation: A clinical report Open
View article: Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders
Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders Open
More than 50 repeat expansion disorders have been identified, with long-read sequencing marking a new milestone in the diagnosis of these disorders. Despite these major achievements, the comprehensive characterization of short tandem repea…
View article: A case of asymptomatic hyperCKemia for 40 years leading to a diagnosis of treatable immune-mediated necrotizing myopathy
A case of asymptomatic hyperCKemia for 40 years leading to a diagnosis of treatable immune-mediated necrotizing myopathy Open
Immune-mediated necrotizing myopathy (IMNM) is a rare but treatable inflammatory myopathy characterized by severe muscle necrosis with minimal inflammatory infiltration. IMNM typically presents with progressive proximal muscle weakness and…
View article: Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances
Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances Open
GNE myopathy is a rare, adult-onset, autosomal recessive muscle disorder caused by biallelic pathogenic variants in the GNE gene, which encodes a key enzyme in the biosynthesis of sialic acid. Deficient GNE enzyme activity results in decre…
View article: MBNL Depletion Induces Muscle Stem Cell Activation and Myofibre Fusion while Impairing Myonuclear Maturation in Myotonic Dystrophy Type 1
MBNL Depletion Induces Muscle Stem Cell Activation and Myofibre Fusion while Impairing Myonuclear Maturation in Myotonic Dystrophy Type 1 Open
Whether skeletal muscle in myotonic dystrophy type 1 (DM1) maintains its regenerative potential or shows inherent muscle stem cell (MuSC) defects remains unresolved. Here, we examine MuSC function in DM1 by combining an adult-onset Mbnl1/2…
View article: A novel m.14677 T > C variant in mitochondrial tRNAGlu gene causes chronic progressive external ophthalmoplegia
A novel m.14677 T > C variant in mitochondrial tRNAGlu gene causes chronic progressive external ophthalmoplegia Open
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by progressive ptosis and ophthalmoplegia, caused by single deletions, point mutations, or multiple deletions in mitochondrial DNA (mtDNA). Most p…
View article: Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy Open
VCP-MSP muscle biopsies consistently show myopathic or mixed patterns with rimmed vacuoles and p62/VCP-positive inclusions, regardless of clinical phenotype, age, or progression. Some lack vacuoles, challenging diagnosis. Discrepancies bet…
View article: Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy
Iron supplementation alleviates pathologies in a mouse model of facioscapulohumeral muscular dystrophy Open
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease caused by ectopic expression of the toxic protein DUX4, resulting in muscle weakness. However, the mechanism by which DUX4 exerts its toxicity remains unclear. In th…
View article: Missense variants in<i>TUBA4A</i>cause myo-tubulinopathies
Missense variants in<i>TUBA4A</i>cause myo-tubulinopathies Open
Tubulinopathies encompass a wide spectrum of disorders resulting from variants in genes encoding α- and β-tubulins, the key components of microtubules. While previous studies have linked de novo or dominantly inherited TUBA4A missense vari…
View article: Pediatric immune-mediated necrotizing myopathy with anti-SRP antibodies targeting 19, 68, and 72 kda subunits
Pediatric immune-mediated necrotizing myopathy with anti-SRP antibodies targeting 19, 68, and 72 kda subunits Open
View article: <scp>LSMEM2</scp> , Localized at the Neuromuscular Junction, Modulates Mitochondrial Integration in Skeletal Muscles
<span>LSMEM2</span> , Localized at the Neuromuscular Junction, Modulates Mitochondrial Integration in Skeletal Muscles Open
In addition to the canonical metabolism‐regulating function, Adenosine monophosphate‐activated protein kinase (AMPK) has noncanonical functions, in which AMPK spatiotemporally phosphorylates specific sets of substrates. Recently, we identi…
View article: Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods Open
Background Neuromuscular disorders (NMDs), rare diseases affecting the peripheral nervous system, often cause progressive weakness and systemic complications. Despite advances in genetic diagnostics, data from Southeast Asia remain limited…
View article: Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathy
Complex associations of genetic/epigenetic variations of CGG repeats with patient phenotypes in oculopharyngodistal myopathy Open
Oculopharyngodistal myopathy (OPDM) is caused by CGG triplet repeat expansions in six genes. To explore the genetics and epigenetics of OPDM, we conducted CRISPR/Cas9-targeted resequencing of repeat regions in 89 patients. Repeat regions e…
View article: Microsatellite expansions hidden within the human dark genome are translated in novel and toxic proteins causing muscle and neurodegenerative diseases
Microsatellite expansions hidden within the human dark genome are translated in novel and toxic proteins causing muscle and neurodegenerative diseases Open
The vast majority of the human genome is non-coding with one-half composed of repeated DNA elements, including microsatellites that are short repeated sequences of 1 to 6 nucleotides. Expansion of a subset of these microsatellites is the l…
View article: Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&gt;T
Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C>T Open
Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterized by progressive muscle weakness, joi…
View article: Dysphagia During Pharyngeal and Esophageal Phase of Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report
Dysphagia During Pharyngeal and Esophageal Phase of Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report Open
View article: Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis
Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis Open
Transposon-like human element 1B (THE1B) originates from ancient retroviral sequences integrated into the primate genome approximately 50 million years ago, now accounting for at least 27,233 copies in the human genome, suggesting their ex…
View article: Cardiac involvement and anti-striational antibodies in immune-mediated necrotizing myopathy
Cardiac involvement and anti-striational antibodies in immune-mediated necrotizing myopathy Open
Immune-mediated necrotizing myopathy (IMNM) is accompanied by extramuscular manifestations including cardiac complications, and such cardiac complications have a serious prognostic impact on these patients. This study aims to investigate c…
View article: Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy Open
View article: SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report
SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report Open
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the …
View article: Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy
Profiling of Anti-Signal-Recognition Particle Antibodies and Clinical Characteristics in South Korean Patients With Immune-Mediated Necrotizing Myopathy Open
This study has confirmed the reliability of the ELISA for anti-SRP54 antibodies and provided insights into the clinical, serological, and pathological characteristics of South Korean patients with anti-SRP IMNM.
View article: A Case of Microscopic Polyangiitis Initially Suspected of Being Anti-synthetase Syndrome
A Case of Microscopic Polyangiitis Initially Suspected of Being Anti-synthetase Syndrome Open
Anti-synthetase syndrome is an autoimmune disorder associated with anti-aminoacyl-tRNA synthetase antibodies, including anti-Jo-1. However, antibody positivity alone is insufficient for the diagnosis because overlapping features with other…
View article: Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis Open
GNE myopathy is an autosomal recessive hereditary muscle disorder that has the following clinical characteristics: develops in early adulthood, gradually progresses from the distal muscles, and is relatively sparing of quadriceps until the…
View article: Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy Open
Background Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs…
View article: Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders
Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders Open
More than 50 repeat expansion disorders have been identified, with long-read sequencing marking a new milestone in the diagnosis of these disorders. Despite these major achievements, the comprehensive characterization of short tandem repea…
View article: Small-vessel vasculitis associated with cholesterol embolism: a case report
Small-vessel vasculitis associated with cholesterol embolism: a case report Open
Our case demonstrates that cholesterol embolism can be accompanied by small-vessel vasculitis of the skin and muscles.
View article: Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in <i>GNE</i> (c.1807G>C, p.V603L) over Four Decades after the Onset
Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in <i>GNE</i> (c.1807G>C, p.V603L) over Four Decades after the Onset Open
We encountered a 67-year-old Japanese man with GNE myopathy and homozygous variants (c.1807G>C, p.V603L) of the GNE gene. The patient developed weakness in the left foot at 24 years old and could only move his wrist joints and hands 43 yea…
View article: History and Perspective of LAMP-2 Deficiency (Danon Disease)
History and Perspective of LAMP-2 Deficiency (Danon Disease) Open
Danon disease, an X-linked dominant vacuolar cardiomyopathy and skeletal myopathy, is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). This disease is one of the autophagy-related muscle diseases. Male pat…
View article: 8. Frontiers in Myositis Diagnosis
8. Frontiers in Myositis Diagnosis Open