Results 21 to 30 of about 1,101 (163)
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.
Narihiro Minami +2 more
exaly +3 more sources
Arterial Stiffness and Markers of Atrial Myopathy. [PDF]
Ann Noninvasive ElectrocardiolArterial stiffness, measured as either c‐f PWV or Aix75, was associated with fewer PACs, whereas no association was found with P‐wave indices. The association between arterial stiffness and atrial myopathy is complex and merits further study. ABSTRACT Background Arterial stiffness, measured using carotid‐femoral pulse wave velocity (c‐f PWV) and heart ...
Okrajni M +9 more
europepmc +2 more sources
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? [PDF]
Am J Case Rep, 2017 BACKGROUND Miyoshi myopathy (MM) is an autosomal-recessive muscle disorder caused by mutations in the DYSF gene. Clinical features and histopathological changes in dysferlinopathies may mimic inflammatory myopathies and a high degree of clinical ...
Scalco RS +7 more
europepmc +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
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
Molecular Therapy: Methods & Clinical Development, 2021 Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo +4 more
doaj +1 more source
Dysferlin interacts with tubulin and microtubules in mouse skeletal muscle. [PDF]
PLoS ONE, 2010 Dysferlin is a type II transmembrane protein implicated in surface membrane repair in muscle. Mutations in dysferlin lead to limb girdle muscular dystrophy 2B, Miyoshi Myopathy and distal anterior compartment myopathy.
Bilal A Azakir +3 more
doaj +1 more source
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies
Annals of Clinical and Translational Neurology, Volume 10, Issue 11, Page 2092-2104, November 2023., 2023 Abstract Objective Clinical and genetic heterogeneities make diagnosis of limb‐girdle muscular dystrophy (LGMD) and other overlapping disorders of muscle weakness complicated and expensive. We aimed to develop a comprehensive next generation sequence‐based multi‐gene panel (“The Lantern Focused Neuromuscular Panel”) to detect both sequence variants and
Babi R. R. Nallamilli +8 more
wiley +1 more source