Results 141 to 150 of about 2,422 (183)

Dynamometric measurement of hand grip and pinch strength as functional independency outcome in neuromuscular diseases. [PDF]

Eur J Phys Rehabil Med
Akin T, Duksal T, Solum S.
europepmc   +1 more source

Novel Variant in <i>ANO5</i> Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis. [PDF]

Genes (Basel)
Ćuk M, Unal B, Lovrenčić L, Walker M, Hayes CP, Abraamyan F, Prutki M, Krakar G, Srkoč-Majčica L, Ghazani AA.   +9 more
europepmc   +1 more source

Remimazolam-based total intravenous anesthesia in a patient with a confirmed diagnosis of malignant hyperthermia: a case report. [PDF]

JA Clin Rep
Kondo H, Mukaida K, Sasai K, Nao Y, Hashimoto K, Miyoshi H, Kanzaki R, Tsutsumi YM.   +7 more
europepmc   +1 more source

[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]

Rev Neurol
Oliveros-Acuña N, Tafur-Gómez N, Ortiz-Corredor F, Castellar-Leones S, Rojas-García W, Correa-Arrieta C.   +5 more
europepmc   +1 more source

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Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

Revue Neurologique, 2012
Miyoshi myopathy is the most common form of recessive distal myopathy. Recessive mutations in the ANO5 gene have been recently identified in Northern Europe as a cause of non dysferlin-linked distal myopathy and limb girdle muscular dystrophy. We report here the first French cases of anoctamin 5 myopathy in 2 brothers presenting with a Miyoshi-like ...
F, Bouquet, M, Cossée, A, Béhin, N, Deburgrave, N, Romero, F, Leturcq, B, Eymard   +6 more
openaire   +4 more sources

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy

Clinical Neurology and Neurosurgery, 2006
Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. The purpose of this study was to diagnose a Chinese pedigree with the autosomal recessive form of muscular dystrophy and conduct mutational screening.The pedigree was diagnosed accurately by using two ...
Sun, Shunchang, Qishi, Fan, Wu, Huacheng, France, Leturcq, Song, Yongjian, Zhang, Bingfeng, Yu, Wen, Nathalie, Deburgrave   +7 more
openaire   +4 more sources

Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Neuromuscular Disorders, 1998
Miyoshi myopathy (MM) is a rare autosomal recessive distal myopathy linked to chromosome 2p12-14 that has not been described in Saudi Arabia. A Saudi family with five siblings aged 3-25 years, an unrelated 18-year-old woman and a 40-year-old man with MM were identified.
E J, Cupler, S, Bohlega, R, Hessler, D, McLean, B, Stigsby, J, Ahmad   +5 more
openaire   +4 more sources

Novel, de novo dysferlin gene mutations in a patient with Miyoshi myopathy

Neuroscience Letters, 2018
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents.
Yi-Ying, Hu, Ya-Jun, Lian, Hong-Liang, Xu, Ya-Ke, Zheng, Chen-Fei, Li, Ji-Wei, Zhang, Shu-Ping, Yan   +6 more
openaire   +4 more sources