Results 31 to 40 of about 7,618,843 (150)

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES [PDF]

, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core   +1 more source

Functional characterization of orbicularis oculi and extraocular muscles [PDF]

, 2016
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Zorzato, Francesco, Sekulic-Jablanovic, M, Ullrich, Nina D., Zorzato, F, Goldblum, D, Sekulic-Jablanovic, Marijana, Goldblum, David, Treves, Susan, Palmowski-Wolfe, Anja, Ullrich, ND, Palmowski-Wolfe, A, Treves, S   +11 more
core   +1 more source

Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset Miopatia centronuclear: aspectos histopatológicos em dez pacientes com a forma clínica de início na infância

Arquivos de Neuro-Psiquiatria, 1998
Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset.
EDMAR ZANOTELI, ACARY SOUZA BULLE OLIVEIRA, BEATRIZ HITOMI KIYOMOTO, BENY SCHMIDT, ALBERTO ALAIN GABBAI   +4 more
doaj   +1 more source

A Family of Congenital Fiber Type Disproportion with Mutation inTropomyosin 3(TPM3) Gene Presenting as Altered Mentality with Respiratory Distress [PDF]

, 2019
Congenital fiber type disproportion (CFTD) has been related with mutations inACTA1,SEPN1,RYR1andtropomyosin 3(TPM3) genes. Particularly,TPM3mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and ...
최영철, 홍지만
core   +1 more source

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

BMC Medical Genetics, 2017
Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies.
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh   +6 more
doaj   +1 more source

Mutations in TPM3 are a common cause of congenital fiber type disproportion.

, 2008
International audienceOBJECTIVE: Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy in which the principal histological abnormality is hypotrophy of type 1 (slow-twitch) fibers compared with type 2 (fast-twitch) fibers.
Kolski, Hanna, Johnson, Edward, S., Clarke, N., Monnier, N., Dye, Danielle, E., Laing, N., Fahey, Michael, C., Kolski, H., Smith, R., Nigel F. Clarke, Nicole Monnier, Clarke, Nigel, F., Annick Labarre‐Vila, Dye, Danielle, Hanna Kolski, Nigel G. Laing, Patel, R., North, K., Monnier, Nicole, Romero, Norma, B., Edward S. Johnson, Danielle E. Dye, Labarre-Vila, Annick, Romero, N., Michael C. Fahey, Rakesh Patel, Bellance, Rémi, Smith, Robert, L. L., Laing, Nigel, G., Patel, Rakesh, Fahey, M., Bellance, R., Esther Lim, Kathryn N. North, Lim, E., Labarre-Vila, A., North, Kathryn, N., Robert L. L. Smith, Rémi Bellance, Norma B. Romero, Lim, Esther, Johnson, E.   +41 more
core   +2 more sources

The molecular dysregulation of excitation contraction coupling in patients with congenital muscle disorders [PDF]

, 2015
Excitation contraction coupling (ECC) is the process whereby an action potential spreading throughout the muscle membrane activates muscle contraction, by releasing Ca2+ from the Sarcoplasmic Reticulum (SR).
Rokach, Ori
core   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source