Results 21 to 30 of about 17,793 (220)
Neurologic Clinics, 2014 In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important
Mazen M, Dimachkie, Richard J, Barohn
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An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
eNeurologicalSci, 2020 Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara +7 more
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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
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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
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causes an early adult onset distal myopathy [PDF]
, 2023 Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including proximal limb-girdle muscular dystrophy, spheroid body myopathy, and late-onset distal myopathy.
Valeria Guglielmi +29 more
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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 +3 more
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
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GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
Annals of Clinical and Translational Neurology, 2021 Background The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy.
Jiaxi Yu +20 more
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UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
, 2008 Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
North Kathryn N. +31 more
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Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]
Neurology India, 2008 Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies.
Malicdan, May Christine V. +1 more
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