Results 201 to 210 of about 924,459 (214)

Congenital tremor and myopathy secondary to novel MYBPC1 variant.

Journal of Neurological Sciences
Congenital myopathy with tremor (MYOTREM) is a recently described disorder characterized by mild myopathy and a postural and intention tremor present since early infancy.
H. Leduc‐Pessah, I. Smith, K. Kernohan, M. Sampaio, Gerd Melkus, Lauren Strasser, Caitlin Chisholm, Li-Jia Huang, Ilana Hanes, My-An Tran, S. Venkateswaran, Katherine Muir, Laurel Charlesworth, J. Warman-Chardon   +13 more
semanticscholar   +1 more source

Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.

Gene, 2018
Here we present a case report of collagen VI related myopathy in a patient, 8 y.o. boy, with intermediate phenotype between severe Ullrich congenital muscular dystrophy and milder Bethlem myopathy.
A. Marakhonov, V. Tabakov, N. Zernov, E. Dadali, Inna V. Sharkova, M. Skoblov   +5 more
semanticscholar   +1 more source

related congenital myopathy: A case series of seven Comorian patients

European Journal of Medical Genetics, 2022
Jean-Luc ALESSANDRI, Berenice Doray
exaly  

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Frontiers in Neurology, 2021
Huan Yang, Kun Huang
exaly  

Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature

Genes, 2023
Martina Corsi, Andrea Santangelo, Gemma Marinella   +2 more
exaly  

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

Human Genetics, 2017
Ellen Knierim, Esther Gill, Franziska Seifert, S. Morales-Gonzalez, Sathya D. Unudurthi, Thomas J. Hund, W. Stenzel, Markus Schuelke   +7 more
semanticscholar   +1 more source

A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation

Neuromuscular Disorders, 2021
Zilda Maria Alves Meira, Sabrina Diniz, Mariz Vainzof   +2 more
exaly  

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Acta Neuropathologica, 2016
R. Straussberg, G. Schottmann, M. Sadeh, Esther Gill, Franziska Seifert, Ayelet Halevy, Kaiyal Qassem, J. Rendu, P. V. D. van der Ven, W. Stenzel, Markus Schuelke   +10 more
semanticscholar   +1 more source

The cytoplasmic bodies in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein

Acta Neuropathologica, 1983
M Osborn
exaly  

Aberrant movement of β-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle.

Archives of Biochemistry and Biophysics, 2015
Y. Borovikov, S. V. Avrova, N. Rysev, V. V. Sirenko, A. O. Simonyan, A. Chernev, O. Karpicheva, A. Piers, C. Redwood   +8 more
semanticscholar   +1 more source