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A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy
Mutations in the DNAJB6 gene cause limb girdle muscular dystrophy D1 (LGMD D1) and distal myopathy with rimmed vacuoles. With the discovery of new...
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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
BackgroundCongenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of...
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Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy
Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)...
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Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype
Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy...
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Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center
BackgroundNemaline myopathy, the most common of the congenital myopathies, is caused by various genetic mutations. In this study, we attempted to...
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Exon skip** caused by splicing mutation in TNNT1 nemaline myopathy
The TNNT1 gene encoding the slow skeletal muscle TnT has been identified as a causative gene for nemaline myopathy. TNNT1 nemaline myopathy is mainly...
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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance...
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Identification of novel FHL1 mutations associated with X-linked scapuloperoneal myopathy in unrelated Chinese patients
Mutations in the FHL1 gene can be associated with a variety of X-linked myopathies and cardiomyopathies, among which X-linked dominant...
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Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
Nemaline myopathy (NM) is a heterogeneous genetic neuromuscular disorder characterized by rod bodies in muscle fibers resulting in multiple...
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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of...
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Distal myopathy due to TCAP variants in four unrelated Chinese patients
Distal myopathies are a group of clinically and genetically heterogeneous hereditary muscle disorders characterized by progressive muscular weakness...
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A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
BackgroundOculopharyngodistal myopathy (OPDM) is an autosomal dominant adult-onset degenerative muscle disorder characterized by ptosis,...
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Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder
While whole genome sequencing and long-read sequencing have become widely available, more and more focuses are on noncoding expanded repeats. Indeed,...
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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
Pathogenic variants impacting upon assembly of mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) predominantly result in early...
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Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy
IntroductionCongenital myopathies are a broad group of inborn muscle disorders caused by a multitude of genetic factors, often characterized by...
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Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center
Nemaline myopathy (NM) is a congenital myopathy of great heterogeneity, characterized by the presence of rods in the cytoplasm of muscle fibers. The...
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A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy
Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms...
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Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype
The MYH2 gene encodes the skeletal muscle myosin heavy chain IIA (MyHC-IIA) isoform, which is expressed in the fast twitch type 2A fibers. Autosomal...
