Results 1 to 10 of about 2,422 (183)

A Case of Obsessive-Compulsive Disorder Comorbid with Miyoshi Myopathy

Indian Journal of Psychological Medicine, 2018
Obsessive-compulsive disorder (OCD) is a common neuropsychiatric disorder, with predominant involvement of cortico-striato-thalamo-cortico circuitry. Although late-onset cases (>35 years) usually show an association with various neurological disorders involving basal ganglia and thalamus, it is not the case with the young-onset patients.
Arpit Parmar, Rohit Verma
doaj   +5 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.
Petra Hnilicova, Marian Grendar, Monika Turcanova Koprusakova, Alzbeta Trancikova Kralova, Jana Harsanyiova, Martin Krssak, Ivica Just, Nadezda Misovicova, Martina Hikkelova, Jan Grossmann, Peter Spalek, Iveta Meciarova, Egon Kurca, Norbert Zilka, Kamil Zelenak, Wolfgang Bogner, Martin Kolisek   +16 more
doaj   +4 more sources

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

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   +4 more sources

Calf heads on a trophy sign: Miyoshi myopathy. [PDF]

J Neurosci Rural Pract, 2015
ABSTRACTMiyoshi myopathy is an autosomal recessive distal myopathy with predominant involvement of the posterior calf muscles attributed to mutations in the dysferlin gene. We report a 26-year-old male, born of nonconsanginous parentage. He noticed weakness and atrophy of leg muscles with inability to walk on his heels.
Shyma MM, Roopchand PS, Ram KM, Shaji CV.   +3 more
europepmc   +4 more sources

A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy. [PDF]

BMJ Case Rep, 2021
Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF). A 33-year-old man was born to a non-consanguineous couple. At the age of 25 he stared to feel weakness of the distal lower limbs and also experienced episodes of rhabdomyolysis.
Ganchinho Lucas S, Vieira Santos I, Pencas Alfaiate FJ, Lino I.   +3 more
europepmc   +3 more sources

Myopathy of distal lower limbs: the clinical variant of Miyoshi [PDF]

Arquivos de Neuro-Psiquiatria, 2003
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.
Soares Cristiane N., Freitas Marcos R.G. de, Nascimento Osvaldo J.M., Silva Lenilda Ferreira da, Freitas Andréa R. de, Werneck Lineu C.   +5 more
doaj   +5 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

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

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