DMD gene pathogenic variations cause a spectrum of phenotypes, ranging from severe Duchenne muscular dystrophy, the Becker milder cases, the intermediate or very mild muscle phenotypes invariably characterized by high CK, and the ultrarare fully-asymptomatic cases. Besides these phenotypes, X-linked dilated cardiomyopathy is also caused by DMD mutations. Males carrying DMD deletions with absent or very mild phenotypes have been sparsely described. We performed a horizon scan on public datasets to enroll males with the above phenotypes and carrying DMD deletions to delineate myopathic genotype-phenotype relationships. We inventoried 81 males, who were divided into the following clinical categorization: fully-asymptomatic males aged >43 years (A, N = 22); isolated hyperCKemia (CK, N = 35); and mild weakness (any age) with or without high CK (WCK, N = 24). In all cases, deleted intervals were exons 2 to 55, and no downstream exons were ever involved, apart from an exon 78 deletion in a WCK patient. All deletions were in-frame apart from the known exception to the rule of exon 2 and exon 78. We correlated the mild phenotypes (A and CK) to deleted exons, intronic breakpoints, exon-exon junctions, 3\' isoforms rule, and protein epitopes, and we found that some genetic profiles are exclusively/mainly occurring in A/CK phenotypes, suggesting they are compatible with a quasi-normal muscular performance. We discussed diverse pathogenic mechanisms that may contribute to mild dystrophinopathic phenotypes, and we tried to address some \"critical\" genetic configurations or exon content needed to preserve a semi-functional DMD gene.

Motor signs accompanying seizures have been considered to result in overexertion of muscles and have the ability to cause elevated levels of serum creatine kinase (CK). There were no previous studies on the treatment of seizure-induced elevated CK. We summarized the characteristics and treatments of six patients with significant elevation of CK after seizure onset. There were four males and two females, the age range was 16-68 years. The CK levels were greater than 5000 U/L in five of the six patients and the highest CK level was 39,300 U/L. All patients exhibited an estimated glomerular filtration rate (eGFR) < 90 mL/min/1.73m2. No patient developed renal failure or required continuous renal replacement therapy. We determined that serial assessment of CK, myoglobin, eGFR, and electrolytes should be performed in patients following seizures. Furthermore, fluid resuscitation, urine alkalization, and diuretic agents should be administrated when CK are significantly elevated after seizure onset. Serial assessment of CK levels after seizures should be performed, especially when the patient experiences electrolyte disorders. Fluid resuscitation, urine alkalization, and diuretic agents also should be administrated to patients when they exhibit a significantly elevated CK or myoglobin after seizures.

The aim of the present case study was to identify the genetic cause of a patient with a clinical presentation of tubular aggregate myopathy (TAM)/Stormorken syndrome (STRMK) and review the published clinical data of patients with TAM/STRMK. A child with thrombocytopenia and hyperCKemia at the Children\'s Hospital of Soochow University were recruited in the study. Peripheral blood samples of the infant and her parents were collected, and then whole-exome sequencing was performed. Detection of the stromal interaction molecule 1 (STIM1) level of the child was performed using western blot analysis. In addition, a literature review was performed based on a thorough retrieval of published literature from the PubMed database, as well as domestic databases. In the present study, the c.326A>G mutation in a STIM1 allele (p.H109R) was identified only in the child, as opposed to the unaffected parents. The level of STIM1 was not decreased in the child. Among the mutation sites identified in previous studies, there were 46 cases across 30 families of STIM1 EF-hand mutations, 21 cases across 14 families of STIM1 CC1 mutations and 20 cases across 8 families of calcium release-activated calcium channel protein 1 mutations, in which 7 parents had the same mutation site as the patient described herein. On the whole, it is demonstrated that TAM/STRMK is an extremely rare disease with autosomal dominant inheritance. Patients often have multisystemic signs. Gene detection at an early stage is helpful for diagnosis. Long-term exercise training may also have a certain curative effect.

BACKGROUND: Muscular A-type lamin-interacting protein (MLIP) has a regulatory role in myoblast differentiation and organization of myonuclear positioning in skeletal muscle. It is ubiquitously expressed but abundantly in cardiac, skeletal, and smooth muscles. Recently, two studies confirmed the causation of biallelic pathogenic variants in the MLIP gene of a novel myopathy phenotype.
OBJECTIVE: Description of the phenotypic spectrum and features of MLIP-related myopathy.
METHODS: report a patient with biallelic variants in MLIP gene with the clinical features, and histomorphological findings of MLIP-related myopathy and provide a literature review of the previously reported 12 patients.
RESULTS: MLIP-related myopathy is characterized by episodes of rhabdomyolysis, myalgia triggered by mild to moderate exercise, mild muscle weakness, and sometimes cardiac involvement characterized by cardiomyopathy and cardiac rhythm abnormalities.
CONCLUSIONS: This report reviews and extends the clinical features of a novel myopathy caused by biallelic pathogenic variants in the MLIP gene.

BACKGROUND: Acupuncture therapy has been widely used as an alternative therapy to treat multiple diseases, such as sequelae of stroke, pain, facial paralysis and so on. In recent years, few adverse events related to acupuncture treatment have been reported, among which hematoma, bleeding and dizziness are the main manifestations. However, to date, there have been no existing cases reported the association between acupuncture therapy and asymptomatic/pauci-symptomatic hyperCKemia.
METHODS: We report a patient who developed hyperCKemia during 5 sessions of acupuncture at different frequencies. After stopping acupuncture treatment for 1 month, follow-up showed a significant downward trend in serum creatine kinase (sCK). However, after that this patient started to get acupuncture treatment again in order to improve the sequelae of stroke. Meantime, the sCK rose again.
CONCLUSIONS: HyperCKemia may associated with acupuncture therapy. All kinds of adverse events of acupuncture should be recorded comprehensively and objectively so as to improve the safety standard system of acupuncture therapy.

Rhabdomyolysis could be caused by various mechanisms including autoimmune reaction. Here, we reported a case of 76-year-old-woman diagnosed with aquaporin-4 (AQP4) IgG positive neuromyelitis optica spectrum disorder (NMOSD) following rhabdomyolysis. After a review of literature, we propose that physical injury of skeletal muscle cells may lead to the production of AQP4 IgG and this AQP4 IgG might further decrease in the stability of skeletal muscle cells creating a positive feedback loop. HyperCKemia might be an inducement of NMOSD.

Immune checkpoint molecules are potent regulators of immunologic homeostasis that prevent the development of autoimmunity while maintaining self-tolerance. Inhibitors of immune checkpoint molecules are used as immunotherapy in the treatment of melanoma and different types of refractory cancer, and can trigger various autoimmune complications including myositis and myasthenia gravis. We describe a case of generalized myasthenia gravis induced by pembrolizumab and review 11 other cases. Five patients also had elevated serum CK levels ranging from 1200 to 8729 IU/L, and biopsy showed myositis in one. Severity was highly variable as symptoms normalized spontaneously in one patient, but three others developed myasthenic crisis (including two with fatal outcomes). Steroids have been recommended as a preferred treatment of autoimmune complications of immune-checkpoint inhibitors. Myasthenia gravis should be considered when weakness, diplopia or bulbar symptoms are seen after treatment with immune checkpoint inhibitors, and additional studies are needed to characterize association with hyperCKemia.