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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

ABSTRACT: A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

PROVIDER: PRJEB56864 | ENA |

REPOSITORIES: ENA

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A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Project description:Tropomyosin 3 variant causing adult onset distal myopathy

| PRJEB57384 | ENA

Transcription profiling of different types of skeletal muscles from wild type and alpha tropomyosin transgenic slow mice to investigate the molecular mechanisms implicated in the mouse model of nemaline myopathy.

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

Nemaline myopathy mouse model

2006-07-21 | GSE3384 | GEO

Next-Generation Sequencing Revealed L-Carnitine Rescues Congenital Myopathy in Transgenic Zebrafish with Tropomyosin 3 Novel Mutation

Project description:Next-Generation Sequencing Revealed L-Carnitine Rescues Congenital Myopathy in Transgenic Zebrafish with Tropomyosin 3 Novel Mutation

| PRJNA627773 | ENA

Legionella sainthelensi case report

Project description:Case report of a human pneumonia due to Legionella sainthelensi

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Project description:A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

| PRJEB57294 | ENA

Post-polio syndrome presenting as isolated neck extensor myopathy: a case report

Project description:Background Post-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 Description A 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. Conclusions Survivors 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

A case report on Chlamydia psittaci

Project description:A case report on Chlamydia psittaci

| PRJEB67291 | ENA

Lawsonella clevelandensis Case Report

Project description:Labium majus abscess in the presence of the novel anaerobic Lawsonella clevelandensis: a first report

| PRJEB40325 | ENA

A case report of deglutition triggered atrial fibrillation in a patient with Laing distal myopathy.

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

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