Results 71 to 80 of about 924,459 (214)

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Frontiers in Neurology, 2020
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

Frontiers in Neurology, 2021
Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort
Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Nereo Bresolin, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Francesca Magri   +17 more
doaj   +1 more source

Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]

, 2003
The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core  

Phenotype standardization for statin-induced myotoxicity. [PDF]

, 2014
Statins are widely used lipid-lowering drugs that are effective in reducing cardiovascular disease risk. Although they are generally well tolerated, they can cause muscle toxicity, which can lead to severe rhabdomyolysis.
Fahy, J., Neely, D, Fahy, J, Wadelius, M, Palmer, CN, Carr, D. F., Maitland-van Der Zee, AH, Laaksonen, R, Maitland-van Der Zee, A. H., Wadelius, M., Yue, QY, Chinoy, H.; id_orcid, Psaty, BM, Bloch, K. M., Cooper, R. G., Neely, D., Psaty, B. M., Chinoy, H., Pirmohamed, M., Chinoy, H, Palmer, C. N. A., Voora, D, Palmer, C. N. A.; id_orcid, Voora, D., Armitage, J., Wadelius, Mia,, Yue, Q. Y., Alfirevic, A., Alfirevic, A, Armitage, J, Palmer, C. N A, Pirmohamed, M, Palmer, PN, Hanson, A., Bloch, KM, Laaksonen, R., Cooper, RG, Yue, Q-Y, Wadelius, Mia, Carr, DF, Hanson, A   +40 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Neonatal Fractures as a Presenting Feature of LMOD3-Associated Congenital Myopathy

American Journal of Medical Genetics. Part A, 2017
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle ...
Megan Abbott, Mahim Jain, Rachel E. Pferdehirt, Yuqing Chen, Alyssa A. Tran, M. B. Duz, M. Seven, R. Gibbs, D. Muzny, Brendan H. Lee, R. Marom, Lindsay C. Burrage   +11 more
semanticscholar   +1 more source

Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians

Annals of Neurology, 2020
Recessive null variants of the slow skeletal muscle troponin T1 (TNNT1) gene are a rare cause of nemaline myopathy that is fatal in infancy due to respiratory insufficiency. Muscle biopsy shows rods and fiber type disproportion.
D. Pellerin, A. Aykanat, B. Ellezam, E. Troiano, J. Karamchandani, M. Dicaire, M. Petitclerc, R. Robertson, X. Allard-Chamard, D. Brunet, C. Konersman, J. Mathieu, J. W. Chardon, V. Gupta, A. Beggs, B. Brais, N. Chrestian   +16 more
semanticscholar   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

PARMAKLARDA EKSTANSOR GÜÇ KAYBI İLE KLİNİĞE YANSIYAN BİR NEMALİN MİYOPATİ OLGUSU

Cerrahpaşa Medical Journal, 2014
Background.- Wide spectrum of genetic defects may lead to congenital myopathies. Thus, clinical features such as age of onset, distribution of weakness and other associating diseases, may very considerably.Diagnostic difficulties are encountered with ...
Şevki ŞAHİN, Mehmet AKALIN, Meral KIZILTAN   +2 more
doaj  

Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report

Journal of Biochemical and Clinical Genetics, 2020
Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory ...
Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi   +8 more
doaj   +1 more source