Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017
Hypothyroidism
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Progressive Proximal Weakness in a 56-year-old Man with Bone Pain
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Clinicopathologic Conference, Cushings syndrome due to a well-differentiated, low-grade thymic neuroendocrine tumor with corticotropin
NEJM 378:2322-2332, Case 18-2018, 2018
A 52-year-old Woman with Progressive Proximal Weakness
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New Aspects on Patients Affected by Dysferlin Deficient Muscular Dystrophy
JNNP 81:946-953, Klinge,L.,et al, 2010
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Eosinophilic Polymyositis
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