Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000231
Abstract: GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis. This myopathy is prevalent in the Iranian Jewish (IJ) descendants because of… read more here.
Keywords: iranian jewish; non gne; quadriceps sparing; gne ... See more keywords
Adult Diagnosis of Type 1 Fiber Predominance Myopathy Caused by Novel Mutations in the RYR1 Gene.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000237
Abstract: We describe a 57-year-old patient with mild diffuse weakness that was incidentally detected when he was evaluated for restless leg syndrome. An electromyography confirmed the presence of a myopathy without suggestion of inflammatory myopathy. A… read more here.
Keywords: fiber predominance; ryr1 gene; type fiber; myopathy ... See more keywords
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical neuromuscular disease"
DOI: 10.1097/cnd.0000000000000392
Abstract: ABSTRACT Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with BAG3-related myopathy present with… read more here.
Keywords: bcl associated; associated athanogene; myopathy; mutation ... See more keywords
Severe osteomalacia mimicking progressive myopathy
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DOI: 10.1111/1756-185x.12641
Abstract: A 40 year old woman was admitted for intense fatigue of the lower limbs with pain in the right thigh. She had no personal medical history and no treatment. She was of Algerian origin, veiled… read more here.
Keywords: osteomalacia mimicking; mimicking progressive; muscle; severe osteomalacia ... See more keywords
X-linked myotubular myopathy
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DOI: 10.1212/wnl.0000000000004428
Abstract: The congenital myopathies (CMs) are a cluster of genetic disorders affecting myofiber structure and function. The salient clinical features are hypotonia, weakness, and motor impairment. The presentation varies from the most severe impairment in the… read more here.
Keywords: neurology; linked myotubular; myopathy; myotubular myopathy ... See more keywords
Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease
Sign Up to like & getrecommendations! Published in 2019 at "Biology Open"
DOI: 10.1242/bio.044867
Abstract: ABSTRACT Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations. 13 genes have been linked to nemaline myopathy (NM),… read more here.
Keywords: nemaline myopathy; identify modifiers; related nemaline; myopathy ... See more keywords
When Statins Get Physical: A Curious Cause of Statin Myopathy.
Sign Up to like & getrecommendations! Published in 2022 at "Southern medical journal"
DOI: 10.14423/smj.0000000000001379
Abstract: We present the case of a 61-year-old male with hyperlipidemia and lumbar radiculopathy admitted to our hospital with rhabdomyolysis attributed to the recent initiation of statin therapy. Despite aggressive fluid resuscitation and an initial declination… read more here.
Keywords: myopathy; cause; muscle; muscle weakness ... See more keywords
TREATMENT OF SUSPECTED EXERTIONAL MYOPATHY USING DANTROLENE IN A COYOTE (CANIS LATRANS)
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DOI: 10.1638/2017-0225.1
Abstract: Abstract: A 3-yr-old spayed female coyote (Canis latrans) developed clinical signs of exertional myopathy after fighting with a conspecific. A diagnosis of exertional myopathy was made based on physical examination findings, probable myoglobinuria, and elevations… read more here.
Keywords: coyote canis; canis latrans; exertional myopathy; myopathy ... See more keywords