Results 71 to 80 of about 2,944 (151)

Bi-allelic mutations in MYL1 cause a severe congenital myopathy. [PDF]

, 2018
OBJECTIVE: Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, approximately 50% of patients with a congenital myopathy remain without a genetic ...
Borsari, M, Bortolotti, CA, Forrest, A, Goullée, H, Haliloglu, G, Kaya, U, Laing, NG, Lambrughi, M, Manzur, A, Muntoni, F, Ong, R, Osborn, DP, Phadke, R, Pignataro, M, Ravenscroft, G, Sewry, CA, Talim, B, UK10K Consortium, Whyte, T, Zaharieva, I   +19 more
core   +1 more source

Silent polymorphisms in the RYR1 gene do not\ud modify the phenotype of the p.4898 I>T\ud pathogenic mutation in central core disease:\ud a case report [PDF]

Background: Central core disease is a congenital myopathy, characterized by presence of central core-like areas in\ud muscle fibers. Patients have mild or moderate weakness, hypotonia and motor developmental delay.
Cuperman, Thais, Fernandes, Stephaine A., Lourenço, Naila C. V., Oliveira, Acary S. B., Pavanello, Rita C. M., Silva, Helga C. A., Vainzof, Mariz, Yamamoto, Guilherme L., Yamamoto, Lydia U, Zatz, Mayana   +9 more
core  

Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy [PDF]

, 2018
Several hereditary conditions affecting cerebral, retinal and systemic microvessels have recently been described. They include CADASIL, CRV, and HERNS. We here report on a variant form of a hereditary systemic angiopathy (HSA) affecting two generations ...
Devys, D., Haller, S., Haufschild, T., Lyrer, P., Mihatsch, M., Probst, A., Steck, A., Tolnay, M., Willi, N., Winkler, D.   +9 more
core  

Reversible positioning head tilt observed in 14 cats with hypokalaemic myopathy. [PDF]

J Feline Med Surg, 2023
Tamura S, Nakamoto Y, Tamura Y.
europepmc   +1 more source

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy. [PDF]

Acta Neuropathol Commun, 2022
Ogasawara M, Eura N, Iida A, Kumutpongpanich T, Minami N, Nonaka I, Hayashi S, Noguchi S, Nishino I.   +8 more
europepmc   +1 more source

Comparative Studies of Hind Limb and Diaphragm Muscles of mdx Mice [PDF]

Histological, immunocytochemical and immunochemical characteristics of diaphragm muscle from mdx and control mice (14-days to 12-months of age) were compared to those of their hind limb muscles.
Anna Fidzianska, Irena Niebrqj-dobosz, Zofia Glinka   +2 more
core  

Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study. [PDF]

BMC Musculoskelet Disord
Deng J, Wang N, Wu Y, Hao Z, Wu H, Ma S, Liu J, Ji G, Song X.   +8 more
europepmc   +1 more source

Multiple symmetric lipomatosis [PDF]

, 1994
Bischof, F., Eckert, P., Klopstock, Thomas, Kottlors, M., Naumann, M., Reichmann, Heinz, Reiners, K., Schalke, B., Seibel, P., Toyka, K.   +9 more
core   +1 more source

GNE myopathy: History, etiology, and treatment trials. [PDF]

Front Neurol, 2022
Mullen J, Alrasheed K, Mozaffar T.
europepmc   +1 more source

Reply to: "Before Coming to the Conclusion That Inclusion Body Myositis Is a Risk Factor for a Heart Attack, All Influencing Factors Must Be Taken Into Account". [PDF]

Eur J Neurol
Naddaf E.
europepmc   +1 more source