-
Article
Autonomic impairment in primary lateral sclerosis
Prior studies reported evidence of autonomic involvement in motor neuron disease and suggested more severe dysfunction in upper motor neuron predominant syndromes. Hence, we sought to characterize autonomic im...
-
Article
Sporadic Late-Onset Nemaline Myopathy: Current Landscape
Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. The pathological hallmark of SLONM is the accum...
-
Article
Open AccessMolecular signatures of inherited and acquired sporadic late onset nemaline myopathies
Acquired sporadic late onset nemaline myopathy (SLONM) and inherited nemaline myopathy (iNM) both feature accumulation of nemaline rods in muscle fibers. Unlike iNM, SLONM is amenable to therapy. The distincti...
-
Chapter
Myopathies with Myofibrillar Pathology
Myofibrillar pathology refers to a series of muscle histopathological abnormalities resulting from myofibrillar dissolution beginning at the Z-discs, leading to accumulation of myofibrillar degradation product...
-
Article
Open AccessMyogenesis 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) myopathy (GNEM) is an autosomal recessive distal myopathy w...
-
Chapter
Necrotizing Autoimmune Myopathy
Necrotizing autoimmune myopathy (NAM) is categorized as one of the idiopathic immune-mediated myopathies. It is characterized by subacute predominantly proximal weakness, elevated serum creatine kinase, and a ...
-
Article
Open AccessFilamentous 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 dominant or recessive pathogenic variants in MYH2 lead to conge...
-
Chapter
Necrotizing Autoimmune Myopathy
Necrotizing autoimmune myopathy (NAM) is categorized as one of the idiopathic immune-mediated myopathies. It is characterized by subacute predominantly proximal weakness, elevated serum creatine kinase, and a ...
-
Article
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient
-
Chapter
Frequently Asked Questions About the Clinical Utility of Next-Generation Sequencing in Molecular Diagnosis of Human Genetic Diseases
Before the advent of next-generation massively parallel sequencing (MPS), Sanger sequencing for many years has been the gold standard for the identification of unknown mutations in candidate genes. However, si...
-
Chapter
Mitochondrial DNA Multiple Deletion Syndromes, Autosomal Dominant and Recessive (POLG, POLG2, TWINKLE and ANT1)
Mitochondrial DNA (mtDNA) replicates continuously. The minimal mitochondrial replisome consists of the DNA polymerase gamma (pol g), the mtDNA helicase Twinkle, and the mitochondrial single-stranded binding pr...
-
Article
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations
The aim of the study was to determine the prevalence of MNGIE-like phenotype in patients with recessive POLG1 mutations. Mutations in the POLG1 gene, which encodes for the catalytic subunit of the mitochondrial D...
-
Article
Open AccessThe muscle protein dysferlin accumulates in the Alzheimer brain
Dysferlin is a transmembrane protein that is highly expressed in muscle. Dysferlin mutations cause limb-girdle dystrophy type 2B, Miyoshi myopathy and distal anterior compartment myopathy. Dysferlin has also b...
-
Article
Erratum: Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating
Nat. Neurosci. 2, 226– 233 (1999) On page 229, Fig. 4a–c reproduced poorly because of a printer's error. The correct version is below.
-
Article
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating
By defining the functional defect in a congenital myasthenic syndrome (CMS), we show that the third transmembrane domain (M3) of the muscle acetylcholine receptor governs the speed and efficiency of gating of ...
-
Article
Cisplatin neuropathy: clinical course and neurophysiological findings
Sixteen patients treated with cisplatin (CDDP) 40 mg/m2 on days 1–5 every 4 weeks for three courses (cumulative dose 600 mg/m2) were clinically and neurophysiologically tested before, during and 1, 3, 6, 9 and 12...
