[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].

Objective: To explore the genetic basis of a myopathic patient with pathological characteristics including tubular aggregates and vacuoles.

Methods: Next generation sequencing was carried out for the patient, and candidate variant was verified by Sanger sequencing.

Results: Genetic testing revealed that the patient has harbored a heterozygous c.

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Background: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity. However, the clinical sign of spastic paraplegia can also be seen in a variety of hereditary neurologic diseases with bilateral corticospinal tract impairment. The purpose of this study is to identify the disease spectrum of spastic paraplegia, and to broaden the coverage of genetic testing and recognize clinical, laboratorial, electrophysiological and radiological characteristics to increase the positive rate of diagnosis.

Gene analysis and clinical features of 22 GNE myopathy patients.

Introduction: GNE myopathy is an autosomal recessive distal myopathy caused by a biallelic mutation in UDP-N-acetylglucosamine 2-epomerase/N-acetylmannosamine kinase. In this study, we discuss the clinical features, pathological characteristics, genetic profiles, and atypical clinical manifestations of 22 Chinese GNE patients.

Materials And Methods: Retrospective analysis was performed for GNE myopathy patients at our institute between 2005 and 2021.

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.

Introduction: Non-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by or mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.

Methods: We reviewed the clinical manifestations, laboratory results, electrocardiogram, electromyography, muscle biopsy, genetic analysis, treatment, and follow-up of 20 patients (from 18 families) with NDM.

The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.

To explore the clinical and genetic characteristics of five families with primary periodic paralysis (PPP). We reviewed clinical manifestations, laboratory results, electrocardiogram, electromyography, muscle biopsy, and genetic analysis from five families with PPP. Five families with PPP included: hypokalemic periodic paralysis type 1 (HypoPP1, , 1/5), hypokalemic periodic paralysis type 2 (HypoPP2, , 2/5), normokalemic periodic paralysis (NormoPP, , 1/5), and Andersen-Tawil syndrome (ATS, , 1/5).

Adolescent/adult-onset homocysteine remethylation disorders characterized by gait disturbance with/without psychiatric symptoms and cognitive decline: a series of seven cases.

Homocysteine remethylation disorders are rare inherited disorders caused by a deficient activity of the enzymes involved in the remethylation of homocysteine to methionine. The adolescent/adult-onset remethylation disorders are rarely reported. We analyzed the clinical and genetic characteristics of seven cases with adolescent/adult remethylation disorders, including 5 cases of the cobalamin C disease (cblC) and 2 cases of the methylenetetrahydrofolate reductase deficiency.

Clinical and Genetic Features of Patients with Juvenile Amyotrophic Lateral Sclerosis with Fused in Sarcoma (FUS) Mutation.

BACKGROUND Juvenile amyotrophic lateral sclerosis (JALS) is a rare form of motor neuron disease and occurs before 25 years of age. Only a few cases of juvenile-onset ALS have been reported. MATERIAL AND METHODS To study genetic and clinicopathological features in Chinese patients with juvenile ALS, we retrospectively reviewed ALS patients in our hospital and screened out 2 patients with disease onset before the age of 25.

VCP myopathy: A family with unusual clinical manifestations.

Introduction: Valosin-containing protein (VCP) variants that affect muscle, bone, and the nervous system are termed multisystem proteinopathy. VCP myopathy is manifested as limb-girdle weakness, distal weakness and scapuloperoneal weakness.

Methods: We reviewed clinical, genetic, and muscle biopsy data from 6 members of a family with VCP myopathy.

Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.

Centronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. Here, we report a cohort of seven CNM patients with their clinical, histological, and morphological features. In addition, using the next-generation sequencing (NGS) technique (5/7 patients), we identified small indels: intronic, exonic, and missense mutations in MTM1, DNM2, and RYR1 genes.

MYH7 mutation associated with two phenotypes of myopathy.

The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis. High-throughput genomic sequencing (next generation sequencing) was performed to validate the diagnosis.

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.

Objectives: The identification of disease-specific genetic and electrophysiological patterns for myotonia congenital (MC) could help clinicians apply in the findings of genetic studies to improve diagnosis. We examined the molecular, clinical, and histopathological characteristics of eight patients with MC.

Methods: Optimization PCR was used to exclude myotonic dystrophies and the CLCN1 gene was sequenced in patients having clinical and electrophysiological features indicative of MC.

Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.

Introduction: Ryanodine receptor 1 (RYR1), myosin heavy chain 7 (MYH7), and selenoprotein N1 (SEPN1) mutations are associated with core myopathies. RYR1 mutations cause most cases of central core disease (CCD).

Methods: We screened 8 Chinese patients with clinicopathological diagnosis of CCD.

Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging.

Background: Early detection of muscular dystrophy (MD)-associated cardiomyopathy is important because early medical treatment may slow cardiac remodeling and attenuate symptoms of cardiac dysfunction; however, no sensitive and standard diagnostic method for MD at an earlier stage has been well-recognized. Thus, the aim of this study was to test the early diagnostic value of technetium 99m-methoxyisobutylisonitrile ((99)Tc(m)-MIBI) gated myocardial perfusion imaging (G-MPI) for MD.

Methods And Results: Ninety-one patients underwent (99)Tc(m)-MIBI G-MPI examinations when they were diagnosed with Duchenne muscular dystrophy (DMD) (n=77) or Becker muscular dystrophy (BMD; n=14).

Optimization PCR for Detection CTG/CCTG-Repeat Expansions in the Diagnosis of Myotonic Dystrophies.

Context: Myotonic dystrophies (DMs) are a group of autosomal dominant neuromuscular disorders which are caused by large CTG/CCTG-repeat expansions in untranslated regions of DMPK/ZNF9 gene. The "phenotypic overlap" in DMs creates complication in distinguishing patients with DM1 from patients with DM2 and underscores the need for these patients to undergo genetic test; therefore, detection and accurate sizing of the CTG/CCTG-repeat expansions are necessary. Templates with long CTG/CCTG tandem repeats are difficult to amplify by convention PCR.

Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.

The present study aimed to examine and analyze cardiac involvement in two Emery‑Dreifuss muscular dystrophy (EDMD) pedigrees caused by the c.1583 C→G mutation of the lamin A/C gene (LMNA). The clinical and genetic characteristics of members of two families with EDMD were evaluated by performing neurological examinations, skeletal muscle biopsies, cardiac evaluations, including electrocardiography, 24 h Holter, ultrasound cardiography and 99TcM‑MIBI‑gated myocardiac perfusion imaging, and genomic DNA sequencing.

Clinical, pathological, and neuroimaging analyses of two cases of Leigh syndrome in a Chinese family.

In this study, the authors examined the clinical manifestations, skeletal muscle pathological characteristics, and neuroimaging results of 2 cases of Leigh syndrome in a Chinese family. The 2 patients presented with general weakness, and 1 of them presented with an impairment of vision. Skeletal muscle biopsies showed a deficiency in cytochrome c oxidase levels.

Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome.

Aims: Floppy infant syndrome (FIS) comprises of a group of disorders with a common symptom of generalized hypotonia at birth or in early life, which causes diagnostic challenge. In the current work, we aimed to describe the clinical and histopathological characteristics of FIS to help improve the diagnosis of this condition.

Methods: We collected information on the clinical characteristics, laboratory data, electrophysiological test results and detailed skeletal muscle biopsy histopathological features of 25 infants with FIS.

DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.

Objective: Dysferlinopathies belong to heterogeneous group of autosomal recessive muscular disorders caused by mutations in the gene encoding dysferlin. The classifications of the dysferlinopathies mainly include limb-girdle muscular dystrophy 2B (LGMD2B) with predominantly proximal weakness, Miyoshi myopathy (MM) with calf muscle weakness and atrophy, and distal myopathy with anterior tibial onset (DMAT) with tibialis muscle atrophy. We describe the genetic character of dysferlinopathies in a group of Chinese patients.

[Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy].

Objective: To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD).

Methods: Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR amplification and direct DNA sequencing of the lamin A/C (LMNA) gene.

[A clinical and pathological analysis of inclusion body myositis].

Objective: To study the clinical and pathological characteristics of inclusion body myositis (IBM).

Methods: Comprehensive analysis of the characteristics of the clinical, laboratory and pathological of 20 patients with IBM was carried out.

Results: Pathological features of biopsied skeletal muscle, inflammatory cells infiltrated in the perimysium, endomysium or around the blood vessels.