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Miyoshi myopathy
Known as:
MIYOSHI MUSCULAR DYSTROPHY 1
, MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL RECESSIVE
, Muscular dystrophy, distal, late onset, autosomal recessive
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A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized…
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National Institutes of Health
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Related topics
Related topics
9 relations
Autosomal recessive inheritance
Connective and Soft Tissue
Genetic Heterogeneity
Lower limb muscle weakness
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Broader (2)
Distal Muscular Dystrophies
Muscular Atrophy
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Dysferlinopathy in Iran: Clinical and genetic report
F. Fatehi
,
S. Nafissi
,
+5 authors
S. Attarian
Journal of Neurological Sciences
2015
Corpus ID: 21452727
2013
2013
Long‐term follow‐up study on patients with Miyoshi phenotype of distal muscular dystrophy
W. Linssen
,
W. G. Voogt
,
+5 authors
M. Visser
European Journal of Neurology
2013
Corpus ID: 3214573
To describe the long‐term follow‐up of a cohort of 22 patients with the Miyoshi phenotype of distal muscular dystrophy (MMD).
Review
2009
Review
2009
HEADED RELATIVES, FREE RELATIVES, AND DETERMINER-HEADED FREE RELATIVES
Taichi Nakamura
2009
Corpus ID: 62651234
© 2009 by the English Linguistic Society of Japan * This is a revised version of the paper presented at the 26th National…
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2009
2009
Novel DYSF mutations in Thai patients with distal myopathy
T. Liewluck
,
S. Pongpakdee
,
+12 authors
I. Nishino
Clinical neurology and neurosurgery (Dutch…
2009
Corpus ID: 29530380
2008
2008
REVISIONE DELLE SPECIE PALEARTICHE DEL GENERE GYMNETRON (INSECTA, COLEOPTERA: CURCULIONIDAE)
R. Caldara
2008
Corpus ID: 81840447
The Palaearctic species of the weevil genus Gymnetron Schoenherr, 1825 are treated systematically. Thirty- two species are…
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2006
2006
Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene
Hyun‐Jung Cho
,
Duck-Hyun Sung
,
Eun-jin Kim
,
C. Yoon
,
C. Ki
,
Jong-Won Kim
Journal of Korean medical science
2006
Corpus ID: 15097372
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on…
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2004
2004
Dysferlin mutation analysis in a group of Italian patients with limb‐girdle muscular dystrophy and Miyoshi myopathy
K. Kawabe
,
K. Goto
,
I. Nishino
,
C. Angelini
,
Y. Hayashi
European Journal of Neurology
2004
Corpus ID: 41753847
Mutations in the dysferlin gene (DYSF) on chromosome 2p13 cause distinct phenotypes of muscular dystrophy: limb‐girdle muscular…
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2004
2004
Alternative quinone substrates and inhibitors of human electron-transfer flavoprotein-ubiquinone oxidoreductase.
M. Šimkovič
,
F. Frerman
Biochemical Journal
2004
Corpus ID: 26066122
Electron-transfer flavoprotein (ETF)-ubiquinone (2,3-dimethoxy-5-methyl-1,4-benzoquinone) oxidoreductase (ETF-QO) is a membrane…
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1997
1997
Laser-Induced Reversion of Photodarkening in CdS-Doped Glass
T. Miyoshi
,
K. Nitta
,
H. Ohkuni
,
Fumihiko Ikeda
,
N. Matsuo
1997
Corpus ID: 97826412
The effect of laser irradiation on photodarkened CdS-doped glass has been investigated as a function of the wavelength of laser…
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1985
1985
Adult T-cell leukemia/lymphoma and its clinical subtypes from the viewpoints of viral etiology.
M. Shimoyama
Current Topics in Microbiology and Immunology
1985
Corpus ID: 7689848
Adult T-cell leukemia-lymphoma (ATL) has been accepted as a well-established clinieohematological disease entity with a special…
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