Results 131 to 140 of about 1,101 (163)

Prominent inflammatory changes on muscle biopsy in patients with Miyoshi myopathy

Neuromuscular Disorders, 1999
Miyoshi myopathy is a rare autosomal recessive distal myopathy characterized by early and prominent involvement of the posterior compartment of the legs. We describe two patients with the clinical diagnosis of Miyoshi myopathy who demonstrated marked inflammatory changes on muscle biopsy of clinically less affected muscles.
J Rowin
exaly   +3 more sources

Miyoshi-like distal myopathy with mutations in anoctamin 5 gene

Revue Neurologique, 2012
Miyoshi myopathy is the most common form of recessive distal myopathy. Recessive mutations in the ANO5 gene have been recently identified in Northern Europe as a cause of non dysferlin-linked distal myopathy and limb girdle muscular dystrophy. We report here the first French cases of anoctamin 5 myopathy in 2 brothers presenting with a Miyoshi-like ...
Mireille Cossée, A Behin, N Romero
exaly   +3 more sources

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Neurology, 2001
Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B). The purpose of this study was to define the genomic organization of the dysferlin gene and conduct mutational screening and a survey of clinical features in 21 patients ...
Aoki, M., Liu, J., Richard, I., Bashir, R., Britton, S., Keers, S. M., Oeltjen, J., Brown, H. E. V., Marchand, S., Bourg, N., Beley, C., McKenna-Yasek, D., Arahata, K., Bohlega, S., Cupler, E., Illa, I., Majneh, I., Barohn, R. J., Urtizberea, J. A., Fardeau, M., Amato, A., Angelini, C., Bushby, K., Beckmann, J. S., Brown, R. H.   +24 more
core   +6 more sources

Novel, de novo dysferlin gene mutations in a patient with Miyoshi myopathy

Neuroscience Letters, 2018
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents.
Ya-Jun Lian, Hong-Liang Xu, Ji-Wei Zhang   +2 more
exaly   +3 more sources

Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features

Neuromuscular Disorders, 1998
Miyoshi myopathy (MM) is a rare autosomal recessive distal myopathy linked to chromosome 2p12-14 that has not been described in Saudi Arabia. A Saudi family with five siblings aged 3-25 years, an unrelated 18-year-old woman and a 40-year-old man with MM were identified.
Edward Cupler, Saeed Bohlega, Bent Stigsby   +2 more
exaly   +3 more sources

A novel compound heterozygous dysferlin mutation in Miyoshi myopathy siblings responding to dantrolene

European Journal of Neurology, 2007
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy characterized by mutations of the dysferlin gene. Although several pairs of homozygous/heterozygous mutations have been reported, few effective treatments of MM are available. We had observed the decreased serum creatine kinase (CK) before and after administration of dantrolene ...
H Hattori, Eiichiro Nagata, Daisuke Itô   +2 more
exaly   +3 more sources

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

Muscle and Nerve, 2004
AbstractMiyoshi myopathy is characterized by weakness of the calf muscles during early adulthood. We report a case of late‐onset Miyoshi myopathy presenting at 48 years of age, with novel mutations in the dysferlin gene. Muscle computed tomography clearly revealed severe atrophy in the soleus and medial gastrocnemius muscles.
Naoki Suzuki, Masashi Aoki, Daiki Takano   +2 more
exaly   +3 more sources

Phenotypic and genotypic analysis of a patient with Miyoshi myopathy caused by truncated protein

Gene
Dysferlin protein deficiency can cause neuromuscular dysfunction, resulting in autosomal recessive dysferlinopathy, which is caused by DYSF gene mutation. Dysferlin proteins belongs to the Ferlin1-like protein family and are associated with muscle membrane repair and regeneration.
Jinyi Zhou, Xiaoxiang Song, Xuqin Chen   +2 more
exaly   +3 more sources

Genetic fine mapping of the Miyoshi myopathy locus and exclusion of eight candidate genes

Neurogenetics, 1998
Miyoshi myopathy (MM) is an early adult-onset, autosomal recessive disorder characterized by weakness and muscular atrophy starting in the distal muscles. The disease locus has been previously mapped by linkage analysis to chromosome 2p using the microsatellite marker D2S291.
Denis Le Paslier, D M Gilligan, R H Brown   +2 more
exaly   +3 more sources

Discordant manifestation in brothers with Miyoshi myopathy

Journal of the Neurological Sciences, 2017
Tumtip Sangruchi
exaly   +2 more sources