A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
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PROVIDER: PRJEB57384 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| ERR10798241.fastq.gz | Fastqsanger.gz | |||
| ERR10798241_1.fastq.gz | Fastqsanger.gz | |||
| ERR10798241_2.fastq.gz | Fastqsanger.gz |
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Project description:A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report
| PRJEB56864 | ENA
Project description:BackgroundWe report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy.Case presentationA 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle MRI showed disproportionate fatty infiltration of the glutei, sartorius and extensor digitorum longus muscles without significant wasting. Muscle biopsy and ultrastructural examination showed a non-specific myopathic pattern without nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous p.Ser246Leu variant (c.737C>T) of the TPM3 gene which is predicted to be pathogenic. This variant is located in the area of the TPM3 gene where the protein product interacts with actin at position Asp25 of actin. Mutations of TPM3 in these loci have been shown to alter the sensitivity of thin filaments to the influx of calcium ions.ConclusionThis report further expands the phenotypic spectrum of myopathies associated with TPM3 mutations, as mutations in TPM3 had not previously been reported with adult-onset distal myopathy. We also discuss the interpretation of variants of unknown significance in patients with TPM3 mutations and summarise the typical muscle MRI findings of patients with TPM3 mutations.
| S-EPMC10161565 | biostudies-literature
Project description:The aim of this study was to investigate the molecular mechanisms implicated in this mouse model of nemaline myopathy, and to further compare the molecular disease response in different skeletal muscles. For this purpose, snap frozen skeletla muscle specimens from wild type and transgenic for alpha tropomyosin slow mice were studied. Five different muscle types were used (diaphragm, plantaris, extensor digitorum longus, tibialis anterior, gastrocnemus). Mice were sacrificed between 7 and 10 months. RNA pools from 3-5 animals were created and each pool was hybridized to a U74Av2 Affymetrix GeneChip. Datasets from 36 GeneChips were included in this study. Experiment Overall Design: 36 skeletal mouse muscle RNA pools were used, from 5 different skeletal muscles, in two different conditions (wild type and transgenic)
2007-12-01 | E-GEOD-3384 | biostudies-arrayexpress
Project description:The aim of this study was to investigate the molecular mechanisms implicated in this mouse model of nemaline myopathy, and to further compare the molecular disease response in different skeletal muscles. For this purpose, snap frozen skeletla muscle specimens from wild type and transgenic for alpha tropomyosin slow mice were studied. Five different muscle types were used (diaphragm, plantaris, extensor digitorum longus, tibialis anterior, gastrocnemus). Mice were sacrificed between 7 and 10 months. RNA pools from 3-5 animals were created and each pool was hybridized to a U74Av2 Affymetrix GeneChip. Datasets from 36 GeneChips were included in this study. Keywords: disease mouse model analysis
2006-07-21 | GSE3384 | GEO
Project description:Next-Generation Sequencing Revealed L-Carnitine Rescues Congenital Myopathy in Transgenic Zebrafish with Tropomyosin 3 Novel Mutation
| PRJNA627773 | ENA
Project description:BackgroundPost-polio syndrome (PPS) is characterized by new or worsening muscular weakness, atrophy, muscle and joint pain, and muscle fatiguability decades after paralytic poliomyelitis infection.Case descriptionA 56-year-old man was diagnosed with paralytic poliomyelitis at the age of five, which left him with flaccid paralysis and weakness of the right leg. One year before seeking chiropractic care, the patient saw his primary care physician with neck pain, low back pain, and fatigue. At the time, he had been diagnosed with degenerative spondylosis and was being treated with tricyclic antidepressants, clonazepam, and tramadol. Despite taking the drugs, his spinal pain and fatigability deteriorated, and he acquired head ptosis during the following six months. As a result, he sought chiropractic care for second opinion. Due to the patient's failure to respond to oral analgesics, radiographs were performed, which revealed degenerative spondylosis, cervical flexion deformity, right pelvic drop, and right thoracolumbar scoliosis. The patient met the PPS diagnostic criteria. PPS related isolated neck extensor myopathy (INEM) was impressed. Multimodal intervention including cervical and lumbar manipulation, spinal traction, micro-vibration deep muscle massage, and core muscle training was provided. As a result of 40-month treatment, the patient reported full resolution of physical complaints. Head posture restored, cervical curvature retrieved and pelvic obliquity relatively corrected.ConclusionsSurvivors of paralytic polio are especially vulnerable to developing leg weakness and length discrepancy, pelvic obliquity, asymmetric axial loading, and trunk muscular imbalance. The current case demonstrates a rare myopathy in a patient at post-polio stage, as well as the restoration of neck function with chiropractic intervention.
| S-EPMC10130685 | biostudies-literature
Project description:Werner syndrome is a rare autosomal recessive premature progeroid syndrome caused by mutations in the WRN gene. It is characterized by early onset of age-related diseases, such as cataracts, atherosclerosis, diabetes mellitus, osteoporosis and malignancies, in which diabetes often onset in patients' 30-40s. Herein, we report a Chinese patient with Werner syndrome with uncommon early-onset diabetes at 18 years-of-age, who had low body mass index, insulin resistance, negative antibodies of diabetes and early onset of cataracts. Genome sequencing and reverse transcription polymerase chain reaction confirm the diagnosis. A novel heterozygous splice-site mutation in the WRN gene (c.1270-2A>T) was identified. The present case reminds clinicians that when young diabetes patients are encountered, if they are accompanied by premature aging, attention should be paid to identifying the possibility of Werner syndrome based on diagnostic criteria.
| S-EPMC8902380 | biostudies-literature
Project description: Not available
| S-EPMC11300394 | biostudies-literature
Project description:BackgroundDeglutition-induced atrial fibrillation is a rare clinical entity with a reported prevalence of 0.6%. Laing distal myopathy is a rare autosomal dominant muscular dystrophy that is the result of mutations within the slow skeletal muscle fibre myosin heavy chain gene (MYH7). Atrial fibrillation has not been previously reported in patients with Laing distal myopathy. We describe the first reported case of deglutition triggered atrial fibrillation in a female with a history of Laing distal myopathy.Case summaryA 44-year-old female with a history of Laing distal myopathy diagnosed at age 32, began experiencing intermittent episodes of pre-syncope and palpitations which occurred after deglutition with food. An ambulatory 30-day patient triggered event monitor recorded episodes of atrial fibrillation with rapid ventricular response. Family history was significant for Laing distal myopathy, atrial fibrillation, as well as sudden cardiac death. Laboratory data, transthoracic echocardiogram, cardiac magnetic resonance imaging, and an exercise treadmill SPECT Imaging stress test were normal. An oesophagram revealed a mild oesophageal dysmotility with no other abnormalities. She was started on flecainide 50 mg p.o. every 8 h and verapamil 40 mg p.o. every 8 h with no further episodes of atrial fibrillation.DiscussionGiven the strong genetic component of this myopathy, one could postulate as to a possible genetic component in the development of atrial fibrillation in our patient. Although we cannot make definite correlation between deglutition-induced atrial fibrillation and Laing myopathy, it is important to report this unusual association which has not been described before.
| S-EPMC8672657 | biostudies-literature
Project description:We performed a genome-wide association study in pooled DNA samples from patients with severe statin myopathy and persistent symptoms post-therapy versus pooled DNAs from an age-adjusted statin-tolerant group. Affymetrix 100K SNP arrays were used according to the manufacturers instructions with two pools of 19 and 20 statin myopathy patients and two pools of 20 statin-tolerant controls.
2010-07-09 | E-GEOD-17574 | biostudies-arrayexpress