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A 40-Year-Old Woman Presenting with Distal Leg Weakness
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A Floppy Child with Failure to Thrive
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Mitochondrial Respiratory-Chain Diseases
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A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
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Glycogen Storage Disease Type III (Glucogen Debranching Enzyme Def) :Biochem Defects & Myopathy & Cardiomyopathy
Ann Int Med 116:896-900, Coleman,R.A.,et al, 1992
Physical Features of Prader-Willi Syndrome in Neonates
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Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, & Strokelike Episodes:A Distinctive Clinical Syndrome
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Clinicopathological Conference
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Paraparesis in Hereditary Multiple Exostoses:Case Report
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Lactic Acidemia, Mitochondrial Myopathy, & Basal Ganglia Calcification
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A Case of Schwartz-Jampel Syndrome with Unusual Muscle Biopsy Findings
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