CASQ1-related myopathy: The first report from China and the literature review.

Calsequestrin 1 (CASQ1) is the most crucial Ca binding protein localized in the sarcoplasmic reticulum (SR) of skeletal muscle. With high capacity and low affinity for Ca, CASQ1 plays a significant role in maintaining a large amount of Ca necessary for muscle contraction. However, only five mutations in have been identified to date.

Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center.

Background: Glycogen storage disease (GSDs) is characterized by abnormally inherited glycogen metabolism. GSD IXd, which is caused by mutations in the gene, is an X-linked rare disease with mild myopathic symptoms. To date, only 13 patients with GSD IXd have been reported.

Clinicopathological-genetic features of congenital myasthenic syndrome from a Chinese neuromuscular centre.

Congenital myasthenic syndrome (CMS) encompasses a heterogeneous group of inherited disorders affecting nerve transmission across the neuromuscular junction. The aim of this study was to characterize the clinical, physiological, pathohistological and genetic features of nine unrelated Chinese patients with CMS from a single neuromuscular centre. A total of nine patients aged from neonates to 34 years were enrolled who exhibited initial symptoms.

Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.

Limb-girdle muscular dystrophy (LGMD) is a group of clinically and genetically heterogeneous neuromuscular disorders. LGMD-R7, which is caused by telethonin gene (TCAP) mutations, is one of the rarest forms of LGMD, and only a small number of LGMD-R7 cases have been described and mostly include patients from Brazil. A total of two LGMD-R7 patients were enrolled at a Chinese neuromuscular center.

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.

GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder. Although GNE, which is the mutated gene responsible for the disease, is well known as the key enzyme in the biosynthesis pathway of sialic acid, the clinicopathological-genetic spectrum of GNE mutant patients is still unclear and expanding.

Clinicopathological features of titinopathy from a Chinese neuromuscular center.

Titin, one of the largest proteins in humans, is a major component of muscle sarcomeres. Pathogenic variants in the titin gene (TTN) have been reported to cause a range of skeletal muscle diseases, collectively known as titinopathy. Titinopathy is a heterogeneous group of disabling diseases characterized by muscle weakness.

The association between myositis-specific autoantibodies and muscle pathologies in idiopathic inflammatory myopathies.

Objective: To investigate specific muscle pathologies of different kinds of myositis-specific autoantibodies (MSAs) in idiopathic inflammatory myopathy (IIM) patients.

Methods: One hundred eleven Chinese patients from Xiangya Hospital, Central South University diagnosed with IIMs according to European Neuromuscular Centre (ENMC) criteria were included. Clinical manifestation, myositis-specific autoantibodies, and histologic findings were evaluated to explore the pattern of necrosis, regeneration, and perifascicular atrophy, inflammatory cells in IIM patients with different MSAs.

Investigation of adult-onset multiple acyl-CoA dehydrogenase deficiency associated with peripheral neuropathy.

Multiple Acyl-CoA dehydrogenase deficiency (MADD), one of the most common lipid storage myopathies (LSMs), is a heterogeneous inherited muscular disorder that is pathologically characterized by numerous lipid droplets in muscle fibers due to lipid metabolism disturbance. MADD exhibits a wide range of clinical features, including skeletal muscle weakness and multisystem dysfunctions. However, MADD, as well as other types of LSM, associated with peripheral neuropathy has rarely been reported during the past four decades.

[Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].

This article reports two cases of childhood-onset nemaline myopathy diagnosed by muscle pathology and genetic diagnosis. The two patients had onset in early childhood, with muscle weakness as the first manifestation, as well as long disease duration and slow progression. Gomori staining and hematoxylin-eosin staining showed red-stained rods in the sarcoplasmic cytoplasm and sarcolemma under a light microscope.

Comparative immunoprofiling of polymyositis and dermatomyositis muscles.

The morphological, immunohistochemical, and immunopathological analyses of muscle biopsy are essential for the diagnosis of idiopathic inflammatory myopathies (IIMs). However, they are also one of the most common causes of misdiagnosis. Although several diagnostic criteria have been proposed for the diagnosis of IIMs, misdiagnosis still remains common in clinical practice.