Results 161 to 170 of about 2,422 (183)
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Dysferlin is a surface membrane–associated protein that is absent in Miyoshi myopathy
Neurology, 1999Recently we reported that mutations in a muscle protein "dysferlin" are present in limb girdle muscular dystrophy-2B and a related, adult-onset, distal dystrophy known as Miyoshi myopathy (MM). We report that antibodies to dysferlin identify a protein of approximately 230 kDa and show that dysferlin is located in the muscle membrane.
C, Matsuda +5 more
openaire +2 more sources
Miyoshi myopathy in Saudi Arabia
Neuromuscular Disorders, 1997Edward J. Cupler +4 more
openaire +1 more source
A novel dysferlin gene mutation in a Filipino male with Miyoshi myopathy
Clinical Neurology and Neurosurgery, 2021Karen Joy, Adiao +2 more
openaire +2 more sources
Exorbitante Wadenhypertrophie bei bioptisch gesicherter Miyoshi-Myopathie
Aktuelle Neurologie, 2006I. Kaupp +3 more
openaire +1 more source
MIYOSHI MYOPATHY PRESENTING IN AN ACTIVE DUTY MEMBER
Southern Medical Journal, 1996Anthony A. Donato, Mark A. Ferrante
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Miyoshi Myopathy—an Unusual Cause of Calf Pain and Tightness
Clinical Journal of Sport Medicine, 2004K E, Fallon, S J, Collins, C, Purdam
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Distal myopathy of Miyoshi type: report of 21 French cases
Neuromuscular Disorders, 1997B. Eymard +6 more
openaire +1 more source
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy
Annals of Neurology, 2002Eduard Gallardo +2 more
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