Results 101 to 110 of about 1,503,695 (131)

Molecular Bases of Myopathies and Their Impact on Clinical Practice: Advances and Future Perspectives. [PDF]

Int J Mol Sci
Campuzano-Donoso M, Reytor-González C, Toral-Noristz M, González Y, Simancas-Racines D.   +4 more
europepmc   +1 more source

Micronutrients and ICU-Acquired Weakness: A Narrative Review. [PDF]

J Clin Med
Galvano AN, Di Nicolò AM, Cusimano R, Giarratano A, Cortegiani A.   +4 more
europepmc   +1 more source

<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort. [PDF]

J Neurol Neurosurg Psychiatry
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN.   +31 more
europepmc   +1 more source

Functional Characterization of an Immortalized Human Muscle Cell Line Carrying the Heterozygous RyR1 p.T4288_A4290dup Associated With Rhabdomyolysis. [PDF]

Hum Mutat
Jin W, Ceren IH, Kido K, Ruiz A, Ianiri T, Sarkozy A, Muntoni F, Mamchaoui K, Buczak K, Zorzato F, Treves S.   +10 more
europepmc   +1 more source

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype. [PDF]

Orphanet J Rare Dis
Leoni C, Viscogliosi G, Pajalunga D, Trevisan V, Mondelli L, Angeli ML, Gullì C, Tatti M, Perri L, Bellani I, Lentini N, Pastorino R, Kuczynska E, Gervasoni J, Romeo DMM, Pane M, Mercuri EM, Cecchetti S, Carpentieri G, Tartaglia M, Zampino G, Flex E.   +21 more
europepmc   +1 more source

Myosin Heavy Chain Myopathy and Immune-Mediated Muscle Disorders. [PDF]

Vet Clin North Am Equine Pract
Durward-Akhurst SA, Valberg SJ.
europepmc   +1 more source

Scoliosis Surgery in a Patient With “De Novo” Myosin Storage Myopathy

Neuromuscular Disorders, 2011
Myosin storage myopathy is a rare neuromuscular disorder, characterized by subsarcolemmal inclusions exclusively in type I skeletal muscle fibers, known as hyaline bodies. Its clinical spectrum is diverse, as are its modes of inheritance. Myosin storage myopathy, also called hyaline body myopathy, is caused by a pathogenic mutation in the MYH7 gene ...
Martin Lammens, Arthur van den Wijngaard, Xenia Stalpers   +2 more
exaly   +5 more sources

MYH7 Gene Mutation in Myosin Storage Myopathy and Scapulo-Peroneal Myopathy

Neuromuscular Disorders, 2007
In order to characterize, at the clinical, molecular and imaging level, myopathies due to MYH7 gene mutations, MYH7 gene analysis was conducted by RT-PCR/SSCP/sequencing in two patients diagnosed with myosin storage myopathy and 17 patients diagnosed with scapulo-peroneal myopathy of unknown etiology.
Giovanna Cenacchi, Roberto Stramare, Elena Pegoraro   +2 more
exaly   +4 more sources

Homozygous MYH7 R1820W Mutation Results in Recessive Myosin Storage Myopathy: Scapuloperoneal and Respiratory Weakness With Dilated Cardiomyopathy

Neuromuscular Disorders, 2015
Myosin storage myopathy (MSM) is a protein aggregate myopathy caused by the accumulation of myosin in muscle fibres and results from MYH7 mutation. Although MYH7 mutation is also an established cause of variable cardiomyopathy with or without skeletal myopathy, cardiomyopathy with MSM is a rare combination.
Aslıhan Tolun, Nur Yuceyar, Ozgecan Ayhan   +2 more
exaly   +6 more sources