Results 1 to 10 of about 45,552 (135)

Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report [PDF]

Journal of Medical Case Reports, 2012
Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene.
Neusch Clemens, Kuhlmann Tanja, Kress Wolfram, Schneider-Gold Christiane   +3 more
doaj   +7 more sources

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies [PDF]

Scientific Reports
Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease caused by DYSF gene mutations. Apart from skeletal muscles, DYSF is also expressed in the brain.
Martin Kolisek, Marian Grendar, Petra Hnilicová   +2 more
exaly   +3 more sources

Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance [PDF]

Journal of Cardiovascular Magnetic Resonance, 2010
Background Miyoshi myopathy (MM) is an autosomal recessive distal myopathy characterized by early adult onset. Cardiomyopathy is a major clinical manifestation in other muscular dystrophies and an important prognostic factor. Although dysferlin is highly
Kim Byoung, Park Seung, Lee Sang-Chol, Choi Jin-Oh, Chang Sung-A, Ryu Dong, Choe Yeon, Park Sung-Ji, Choi E, Kim Duk-Kyung, Oh Jae K   +10 more
doaj   +4 more sources

Efficient and reproducible myogenic differentiation from human iPS cells: prospects for modeling Miyoshi Myopathy in vitro. [PDF]

PLoS ONE, 2013
The establishment of human induced pluripotent stem cells (hiPSCs) has enabled the production of in vitro, patient-specific cell models of human disease.
Akihito Tanaka, Knut Woltjen, Katsuya Miyake, Akitsu Hotta, Makoto Ikeya, Takuya Yamamoto, Tokiko Nishino, Emi Shoji, Atsuko Sehara-Fujisawa, Yasuko Manabe, Nobuharu Fujii, Kazunori Hanaoka, Takumi Era, Satoshi Yamashita, Ken-Ichi Isobe, En Kimura, Hidetoshi Sakurai   +16 more
doaj   +2 more sources

Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report [PDF]

BMC Musculoskeletal Disorders
Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once ...
Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev   +11 more
doaj   +2 more sources

Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report [PDF]

Heliyon
Miyoshi Muscular Dystrophy Type 1 is a rare autosomal recessive myopathy caused by mutations in the dysferlin (DYSF) gene. This disease presents with progressive distal lower limb weakness, such as gastrocnemius and soleus muscles resulting in difficulty
Alex S. Aguirre, Vanessa I. Romero
doaj   +2 more sources

DYSF gene variant spectrum in Arab populations across eight countries: A systematic review [PDF]

Biomolecules & Biomedicine
Dysferlinopathies are a subset of autosomal recessive muscular dystrophies resulting from pathogenic variants in the dysferlin (DYSF) gene. The prevalence of dysferlinopathies remains inadequately defined.
Fatimazahra Smaili, Khawla Zerrouki, Fatima Ezzahra Aouni, Mariam Tajir   +3 more
doaj   +2 more sources

Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. [PDF]

Int J Genomics
Introduction: Muscular dystrophy (MD) refers to a group of hereditary disorders characterized by progressive muscle degeneration, often caused by a deficiency or insufficient levels of glycoproteins in muscle cell membranes. Mutations in various genes lead to different types of MD, each with distinct clinical manifestations and inheritance patterns ...
Baghshomali S, Jebelli A, Kazemzadeh M, Jalalypour F, Yazdchi M, Mokhtarzadeh AA, Emrahi L.   +6 more
europepmc   +2 more sources

Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]

Orphanet Journal of Rare Diseases
Background Dysferlin (DYSF) has a crucial role in sarcolemmal repair. While DYSF mutations commonly manifest as limb-girdle muscular dystrophy (LGMDR2) or distal Miyoshi myopathy, atypical manifestations, such as asymptomatic hyperCKemia and ...
Ikreet Cheema, Jacob Goodwin, Teerin Liewluck, Robert Charles Bucelli, Alan Pestronk, Margherita Milone   +5 more
doaj   +2 more sources

A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy [PDF]

Indian Journal of Psychological Medicine, 2018
Arpit Parmar, Rohit Verma
doaj   +2 more sources