scholarly journals Miyoshi myopathy

2020 ◽  
Author(s):  
Keyword(s):  
Miyoshi Myopathy

Miyoshi Myopathy—an Unusual Cause of Calf Pain and Tightness

2004 ◽  
Vol 14 (1) ◽  
pp. 45-47 ◽  
Author(s):  
K. E. Fallon ◽  
S. J. Collins ◽  
C. Purdam
Keyword(s):  
Calf Pain ◽  
Miyoshi Myopathy

scholarly journals Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy

2017 ◽  
Vol 38 (12) ◽  
pp. 1190-1195
Author(s):  
Muhammad Ullah ◽  
Arsalan Ahmad ◽  
Milena Žarković ◽  
Syed Shah ◽  
Abdul Nasir ◽  
...  
Keyword(s):  
Pakistani Family ◽  
Miyoshi Myopathy

scholarly journals Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

1999 ◽  
Vol 75 (7) ◽  
pp. 207-212 ◽  
Author(s):  
Tsuyoshi MATSUMURA ◽  
Masashi AOKI ◽  
Atsushi NAGANO ◽  
Yukiko K. HAYASHI ◽  
Chie ASADA ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Japanese Patients ◽  
Molecular Genetic Analysis ◽  
Miyoshi Myopathy

scholarly journals Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

2000 ◽  
Vol 10 (8) ◽  
pp. 553-559 ◽  
Author(s):  
Louise V.B Anderson ◽  
Ruth M Harrison ◽  
Robert Pogue ◽  
Elizabeth Vafiadaki ◽  
Christine Pollitt ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Calpain 3 ◽  
Miyoshi Myopathy

scholarly journals Myopathy of distal lower limbs: the clinical variant of Miyoshi

2003 ◽  
Vol 61 (4) ◽  
pp. 946-949 ◽  
Author(s):  
Cristiane N. Soares ◽  
Marcos R.G. de Freitas ◽  
Osvaldo J.M. Nascimento ◽  
Lenilda Ferreira da Silva ◽  
Andréa R. de Freitas ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Adult Life ◽  
Lower Limbs ◽  
Leg Muscles ◽  
Early Adult Life ◽  
Three Sisters ◽  
Very High ◽  
Miyoshi Myopathy ◽  
Distal Myopathies ◽  
Autosomal Recessive Pattern

Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles. Recently gene linkage to chromosome 2p12-14 has been established. We report three sisters, born of consanguineous parents. All of them noticed weakness and atrophy of leg muscles, and could not walk on their heels. In all of them the creatine kinase concentrations were very high. The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic changes and an absence of dysferlin. There are few cases reported of Miyoshi distal dystrophy in Latin America. The Miyoshi myopathy may be distinct among the hereditary distal myopathies.

scholarly journals Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

2005 ◽  
Vol 26 (6) ◽  
pp. 592-592
Author(s):  
Karine Nguyen ◽  
Guillaume Bassez ◽  
Rafaëlle Bernard ◽  
Martin Krahn ◽  
Véronique Labelle ◽  
...  
Keyword(s):  
Miyoshi Myopathy

P1.24 Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy

2010 ◽  
Vol 20 (9-10) ◽  
pp. 607
Author(s):  
D. Hicks ◽  
A. Sarkozy ◽  
N. Muelas ◽  
A. Huebner ◽  
G. Hudson ◽  
...  
Keyword(s):  
Common Cause ◽  
Miyoshi Myopathy

Progression of muscle involvement in Miyoshi myopathy by CT and MRI muscle imaging

1997 ◽  
Vol 7 (6-7) ◽  
pp. 461
Author(s):  
G. Meola ◽  
V. Sansone ◽  
G. Rotondo ◽  
M. Sterlicchio ◽  
A. Jabbour
Keyword(s):  
Muscle Involvement ◽  
Ct And Mri ◽  
Miyoshi Myopathy

A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

2001 ◽  
Vol 11 (2) ◽  
pp. 139-145 ◽  
Author(s):  
Hidetsugu Ueyama ◽  
Toshihide Kumamoto ◽  
Shin-ichiro Nagao ◽  
Tomoko Masuda ◽  
Hideo Horinouchi ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Gene Mutation ◽  
Limb Girdle Muscular Dystrophy ◽  
Miyoshi Myopathy

Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy

2004 ◽  
Vol 29 (5) ◽  
pp. 721-723 ◽  
Author(s):  
Naoki Suzuki ◽  
Masashi Aoki ◽  
Toshiaki Takahashi ◽  
Daiki Takano ◽  
Masahiro Asano ◽  
...  
Keyword(s):  
Muscle Atrophy ◽  
Late Onset ◽  
Miyoshi Myopathy
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