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This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.

This study found that copper injections increased dopamine-β-hydroxylase activity in the brains of mottled mice, an animal model for Menkes' syndrome.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.

This review discusses the evolution and development of smart and multifunctional microneedles, highlighting their potential future importance in medical applications, but it reports no new experimental results.

In this case report, a 25-year-old female with Mixed Connective Tissue Disease presented unusual symptoms in a specific geographical region, prompting clinicians to approach diagnosis and management with caution due to potential severe complications such as pulmonary hypertension and renal crisis.

Manganese levels in hair may be linked to multiple sclerosis.

This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.

This case report concluded that undiagnosed Menkes disease, an X-linked disorder causing copper deficiency, contributed to a 7-month-old's illness and death, complicating his presentation with viral septic shock and methamphetamine exposure.

This study found that hair manganese levels did not vary by acute coronary syndrome or stable coronary artery disease severity, but a modest, non-significant correlation with body mass index suggests a potential link between manganese homeostasis and cardiometabolic status that warrants further investigation.

This case report describes an 8-year-old girl with Mixed Connective Tissue Disease who experienced remission after treatment with immunomodulator drugs, highlighting the diagnostic value of anti-U1 RNP antibody testing in children.

This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.

Neuromyotonia and morphoea can occur together in the same body areas.

In this case report, a woman in her 50s was diagnosed with meningitis linked to mixed connective tissue disease after presenting symptoms similar to infectious meningitis, but with no infection detected and serological evidence pointing to the autoimmune condition.

This study found that a more liberal intake of restricted amino acids in patients with methylmalonic acidemia resulted in improved growth and fewer illness episodes.

This study found that early diagnosis using gas chromatography/mass spectrometry and appropriate long-term treatment are crucial for improving outcomes in patients with methylmalonic acidemia.

This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This review highlights recent advancements in microneedle technology, noting its ability to enhance transdermal drug delivery, biosensing, cancer treatment, and skin disease repair, while emphasizing its potential for improving patient compliance and reducing side effects.

This review explores the recent developments and diverse applications of microneedles in drug delivery and diagnostic platforms but reports no new clinical results.

This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.

This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.

This review discusses the safety and potential adverse events of microneedling as both a medical and consumer product, noting the need for further understanding; no new clinical results are presented.

In this case report, the researchers highlight a possible association between myotonic dystrophy type 1 and multiple tongue hemangiomas, and emphasize that patients with this condition can experience exacerbated respiratory muscle weakness and risk of respiratory failure even with epidural anesthesia.

Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.

Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.

This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.