Results 11 to 20 of about 1,101 (163)

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   +3 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   +3 more sources

EFFECT OF STRUCTURED EXERCISE REGIMEN ON QUALITY OF LIFE, BALANCE AND STRENGTH ON A PATIENT WITH MIYOSHI MYOPATHY – A CASE REPORT

International Journal of Physiotherapy, 2020
Background: Dysferlinopathy is an autosomal recessive disease seen in adolescence or young adulthood. Miyoshi Myopathy is characterized by weakness and wasting of posterior compartment leg muscles rather than the anterior compartment and distal upper ...
Abhishek Taklekar, Akhil Samson, Tushar Palekar   +2 more
doaj   +2 more sources

Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy. [PDF]

Saudi Med J, 2017
To identify the underlying gene mutation in a large consanguineous Pakistani family.  Methods: This is an observational descriptive study carried out at the Department of Biochemistry, Shifa International Hospital, Quaid-i-Azam University, and Atta-ur-Rahman School of Applied Biosciences, National University of Sciences and Technology, Islamabad ...
Ullah MI, Ahmad A, Zarkovic M, Shah SS, Nasir A, Mahmood S, Ahmad W, Hubner CA, Hassan MJ.   +8 more
europepmc   +3 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

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease [PDF]

Neuromuscular Disorders, 2021
This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). LGMDR2 and MMD1 are reported to involve different muscles, with LGMDR2 showing predominant limb girdle weakness and MMD1 showing ...
Moore, Ursula, Gordish, Heather, Diaz-Manera, Jordi, James, Meredith, Mayhew, Anna, Guglieri, Michela, Fernandez-Torron, Roberto, Rufibach, Laura, Feng, Jia, Blamire, Andrew, Carlier, Pierre, Spuler, Simone, Day, John, Jones, Kristi, Bharucha-Goebel, Diana, Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie, Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Pax Lowes, Linda, Mendell, Jerry, Bushby, Kate, Straub, Volker   +26 more
openaire   +11 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

Identification of a Dysferlin Gene Mutation in a Korean Case with Miyoshi Myopathy

Yonsei Medical Journal, 2004
Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry.
Seung Hun, Oh, Tai Seung, Kim, Young Chul, Choi   +2 more
openaire   +3 more sources

Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy

Muscle and Nerve, 1996
We describe clinical, pathological, and muscle imaging findings in a patient with an early adult-onset progressive muscular weakness in association with atrophy beginning in the legs and involving both gastrocnemi in particular. Muscle biopsy findings showed a severe dystrophic process with no vacuoles, consistent with Miyoshi's myopathy.
Giovanni Meola, Valeria Sansone
exaly   +4 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