Results 101 to 110 of about 880 (137)

Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy. [PDF]

BMJ Case Rep
Benn KW, Bhalala OG, Day TJ, French CR.
europepmc   +1 more source

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy

Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
openaire  

Some of the next articles are maybe not open access.

Related searches:

Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy

Clinical Neurology and Neurosurgery, 2006
Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. The purpose of this study was to diagnose a Chinese pedigree with the autosomal recessive form of muscular dystrophy and conduct mutational screening.The pedigree was diagnosed accurately by using two ...
France Leturcq, Qishi Fan, Nathalie Deburgrave   +2 more
exaly   +3 more sources

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, Julie 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 ...
A Behin, N Romero
exaly   +3 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.
Hong-Liang Xu, Ya-Jun Lian
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.
Saeed Bohlega, Edward Cupler, 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 ...
Norihiro Suzuki, Daisuke Itô
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, Rumiko Izumi
exaly   +3 more sources