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]
HeliyonMiyoshi 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
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 +8 more
europepmc +3 more sources
DYSF gene variant spectrum in Arab populations across eight countries: A systematic review [PDF]
Biomolecules & BiomedicineDysferlinopathies 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 +3 more
doaj +2 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 +10 more
doaj +2 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
exaly +4 more sources
Dysferlinopathy as cause of long-term hyperCKemia with preserved strength [PDF]
Orphanet Journal of Rare DiseasesBackground 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 +5 more
doaj +2 more sources
A case of LGMD2A (Calpainopathy) clinically presenting as Miyoshi distal myopathy
Clinical Neurology, 2008 We reported a 23-year-old woman with distal myopathy and highly elevated serum creatine kinase (CK) caused by calpainopathy. Although muscle weakness was not evident, a muscle CT scan revealed replacement by adipose tissue in the medial head of the gastrocnemius.
Ichizo Nishino
exaly +3 more sources
The challenging diagnosis of dysferlinopathy – a case report [PDF]
Romanian Journal of Neurology, 2021 Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc +4 more
doaj +1 more source
Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family. [PDF]
Int J GenomicsIntroduction: 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 +6 more
europepmc +2 more sources
BMC Neurology, 2022 Background Dysferlinopathy is an autosomal recessive muscular dystrophy caused by pathogenic variants in the dysferlin (DYSF) gene. This disease shows heterogeneous clinical phenotypes and genetic characteristics.
Ning Wang +11 more
doaj +1 more source